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School of Medicine

Professor Graeme Black 

Photograph of Graeme Black

Professor of Genetics and Ophthalmology

Professor Graeme C.M. Black DPhil FRCOphth,
Honorary Consultant in Genetics and Ophthalmology

Genetic Medicine,
Manchester Academic Health Science Centre,
University of Manchester,
Central Manchester University Hospitals NHS Foundation Trust
St Mary's Hospital, Oxford Road, Manchester M13 9WL, UK

Tel 0161 276 6269 Fax 0161 276 6145
 

 

Role

Professor and Honorary  Consultant in Genetics and Ophthalmology, University of Manchester/Central Manchester University Hospitals NHS Foundation Trust

Director; Manchester Biomedical Research Centre, Manchester Biomedical Research Centre,

Academic Section Lead, Human development, Manchester Academic Health Science Centre

 

Memberships of Committees and Professional Bodies

British Society of Human Genetics

Fellow, Royal College of Ophthalmologists

Research

My major research interest is the investigation of genetic disorders associated with visual disability. The ultimate aims are to improve the diagnosis, management and treatment of such conditions. This work has focused on the characterisation of genes and proteins underlying inherited developmental disorders such as anophthalmia & cataract and retinal degenerative disorders.

Microphthalmia/Anophthalmia spectrum. We have demonstrated that X-linked microphthalmia and Oculo-facial-cardio-dental syndrome are caused by mutation in an X-linked transcriptional regulator, BCOR, which encodes the BCL-6 transcriptional co-repressor. To study BCOR function, we have used morpholino oligonucleotides to knockdown expression of xtBcor in Xenopus tropicalis. This work demonstrated that xtBcor is required for lateral specification and suggests that BCOR is required in normal laterality determination in humans. Work now being undertaken examines how BCOR regulates other genes that are also mutated in human microphthalmia phenotypes.

Corneal dystrophies. We have studied the pathogenetic mechanisms underlying a range of human corneal dystrophies including lattice and granular dystrophies (caused by mutations in the extracellular matrix molecule TGFBI). Here current work is exploreingthe development of novel thereapeutic mechanisms for such conditins. We have also studied the rare blinding disorder Brittle Cornea syndrome.

Best disease and related Retinal Dystrophies Best disease, an autosomal dominant disorder associated with macular visual loss, is caused by mutations in BEST1. The gene product, bestrophin, is a chloride channel located at the basolateral membrane of the RPE. Best disease-causing missense mutations alter chloride ion-related conductance across the RPE cell membrane. By studying genotype:phenotype correlations amongst mutations in BEST1 we have demonstrated that BEST1 mutations also cause autosomal dominant vitreoretinochoroidopathy. Recently we demonstrated that a novel retinal phenotype, autosomal recessive bestrophinopathy, results from biallelic BEST1 mutation. Ongoing studies aim to elucidate the function of the normal protein.

Models of Care for Inherited Eye Diseases The identification of genes causing retinal dystrophies has been highly successful, shedding light on biochemical pathways critical to photoreceptor health. It has expanded the need for genetic testing to support management of affected patients and families. Since 2005 we have provided a national service for genetic testing for inherited retinal dystrophies. Free at the point of contact (funding is provided by Strategic Health Authorities and subject to local priority constraints). Our audit data shows inequality of access to these services. We are currently undertaking research to examine the development of new models of care provision for families with genetic eye diseases. Our current programme aims a) to develop a patient-led, evidenced-based model for providing genetic services to families with inherited retinal dystrophy and b) to evaluate new sequencing technologies for retina dystrophies as current techniques for mutation detection are ineffective for conditions of high heterogeneity such as retinitis pigmentosa.

 

Biography

Graeme qualified in Medicine from Oxford and then undertook clinical training in Ophthalmology and Medical Genetics. He is now Professor of Genetics and Ophthalmology Central Manchester and Manchester Children's University Hospitals NHS Trust.

During training he undertook at DPhil with Professor Ian Craig in the Department of Biochemistry in Oxford, studying the genetics of X-linked inherited ophthalmic disease. It was this period that enabled Graeme to develop my combined subspecialty interests.

Having moved to Manchester in 1995 Graeme became a Wellcome Trust Clinician Scientist Fellow in 1997. He was awarded a Wellcome Trust Senior Research Fellowship in Clinical Science in 2002 to focus on functional analyses of recently identified genes, defining their role in normal development as well as in the disorders studied.

Graeme's research interests centre on inherited disorders that are associated with visual disability and blindness, their causes and their management.

 

Qualifications

MA MB BCh DPhil FRCOphth

 

Collaborators and affiliated staff

Outside Manchester

Dr Bart Leroy, Dept of Ophthalmology & Ctr for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Professor AT Moore, Professor SS Bhattacharya, Mr AR Webster Institute of Ophthalmology, UCL, London

Professor Les Biesecker, National Institutes of Health National, Human Genome Research Institute, Human Development Unit, Bethesda, USA

Professor Veronica van Heyningen, Dr David Fitzpatrick MRC Unit of Mammalian Genetics, Crewe Road, Edinburgh.

Within Manchester

Dr Forbes Manson

Professor Dian Donnai, Dr Jill Clayton Smith

Professor Peter Clayton

 

Publications

2012

  • Jun, A., Meng, H., Ramanan, N., Matthaei, M., Chakravarti, S., Bonshek, R., Black, G., Grebe, R. & Kimos, M (2012). An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. Hum Mol Genet, 21(2), 384-93. eScholarID:144324 | PMID:22002996 | DOI:10.1093/hmg/ddr473

2011

  • Bella, H., Heise, M., Yagi, K., Black, G., McGrouther, D. & Bayat, A (2011). A clinical characterization of familial keloid disease in unique African tribes reveals distinct keloid phenotypes. Plast Reconstr Surg, 127(2), 689-702. eScholarID:144322 | PMID:21285773 | DOI:10.1097/PRS.0b013e3181fed645
  • Borman, A., Davidson, A., O'Sullivan, J., Thompson, D., Robson, A., De Baere, E., Black, G., Webster, A., Holder, G., Leroy, B., Manson, F. & Moore, A (2011). Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol, 129(8), 1088-93. eScholarID:144323 | PMID:21825197 | DOI:10.1001/archophthalmol.2011.197
  • Briggs, et al (2011). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet, 43(2), 127-31. eScholarID:144336 | PMID:21217755 | DOI:10.1038/ng.748
  • Burkitt Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C. & Black, G (2011). Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet, 88(6), 767-77. eScholarID:144335 | PMID:21664999 | DOI:10.1016/j.ajhg.2011.05.007
  • Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A., Thomas, T., Biesecker, L., Smith, P., Fryer, A., Chandler, K., Kerr, B., Tassabehji, M., Lynch, S., Krajewska-Walasek, M., McKee, S., Smith, J., Sweeney, E., Mansour, S., Mohammed, S., Donnai, D. & Black, G (2011). Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet, 89(5), 675-81. eScholarID:144338 | PMID:22077973 | DOI:10.1016/j.ajhg.2011.10.008
  • Davidson, A., Millar, I., Burgess-Mullan, R., Maher, G., Urquhart, J., Brown, P., Black, G. & Manson, F (2011). Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci, 52(6), 3730-6. eScholarID:144331 | PMID:21330666 | DOI:10.1167/iovs.10-6707
  • Hannibal, M., Buckingham, K., Ng, S., Ming, J., Beck, A., McMillin, M., Gildersleeve, H., Bigham, A., Tabor, H., Mefford, H., Cook, J., Yoshiura, K., Matsumoto, T., Matsumoto, N., Miyake, N., Tonoki, H., Naritomi, K., Kaname, T., Nagai, T., Ohashi, H., Kurosawa, K., Hou, J., Ohta, T., Liang, D., Sudo, A., Morris, C., Banka, S., Black, G., Clayton-Smith, J., Nickerson, D., Zackai, E., Shaikh, T., Donnai, D., Niikawa, N., Shendure, J. & Bamshad, M (2011). Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A, 155A(7), 1511-6. eScholarID:144333 | PMID:21671394 | DOI:10.1002/ajmg.a.34074
  • Hanson, D., Murray, P., O'Sullivan, J., Urquhart, J., Daly, S., Bhaskar, S., Biesecker, L., Skae, M., Smith, C., Cole, T., Kirk, J., Chandler, K., Kingston, H., Donnai, D., Clayton, P. & Black, G (2011). Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet, 89(1), 148-53. eScholarID:144328 | PMID:21737058 | DOI:10.1016/j.ajhg.2011.05.028
  • Low, S., Davidson, A., Holder, G., Hogg, C., Bhattacharya, S., Black, G., Foster, P. & Webster, A (2011). Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study. Mol Vis, 17, 2272-82. eScholarID:144325 | PMID:21921978
  • Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., Antonini, D., Murray, J., Shanske, A., Schutte, B., Romano, R., Sinha, S., Bhaskar, S., Black, G., Dixon, J. & Dixon, M (2011). Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus. Am J Hum Genet, eScholarID:144329 | PMID:22197488 | DOI:10.1016/j.ajhg.2011.11.013
  • Osbun, N., Li, J., O'Driscoll, M., Strominger, Z., Wakahiro, M., Rider, E., Bukshpun, P., Boland, E., Spurrell, C., Schackwitz, W., Pennacchio, L., Dobyns, W., Black, G. & Sherr, E (2011). Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A, 155A(8), 1865-76. eScholarID:144332 | PMID:21739582 | DOI:10.1002/ajmg.a.34081
  • O'Sullivan, J., Bitu, C., Daly, S., Urquhart, J., Barron, M., Bhaskar, S., Martelli, H., Neto, P., Mansilla, M., Murray, J., Coletta, R., Black, G. & Dixon, M (2011). Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 88(5), 616-620. eScholarID:126093 | DOI:10.1016/j.ajhg.2011.04.005
  • Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C. & Black, G (2011). Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance. AMERICAN JOURNAL OF HUMAN GENETICS, 88(6), 767-777. eScholarID:126094 | DOI:10.1016/j.ajhg.2011.05.007

2010

  • Banka, S., Lloyd, I., Black, G., Trueman, S., Gibbs, J. & Clayton-Smith, J (2010). De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability. Clin Dysmorphol, 19(2), 73-5. eScholarID:83931 | PMID:20177379 | DOI:10.1097/MCD.0b013e328331a6d7
  • Daly, S., Urquhart, J., Hilton, E., McKenzie, E., Kammerer, R., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D., Burgu, B., Aydogdu, O., Derbent, M., Garcia-Minaur, S., Reardon, W., Gener, B., Shalev, S., Smith, R., Woolf, A., Black, G. & Newman, W (2010). Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet, 86(6), 963-9. eScholarID:83927 | PMID:20560210 | DOI:10.1016/j.ajhg.2010.05.006
  • Latif, A., Hadfield, K., Roberts, S., Shenton, A., Lalloo, F., Black, G., Howell, A., Evans, D. & Newman, W (2010). Breast cancer susceptibility variants alter risks in familial disease. J Med Genet, 47(2), 126-31. eScholarID:83935 | PMID:19617217 | DOI:10.1136/jmg.2009.067256
  • Nishimura, D., Baye, L., Perveen, R., Searby, C., Avila-Fernandez, A., Pereiro, I., Ayuso, C., Valverde, D., Bishop, P., Manson, F., Urquhart, J., Stone, E., Slusarski, D., Black, G. & Sheffield, V (2010). Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet, 86(5), 686-95. eScholarID:83929 | PMID:20398886 | DOI:10.1016/j.ajhg.2010.03.005
  • Towns, K., Kipioti, A., Long, V., McKibbin, M., Maubaret, C., Vaclavik, V., Ehsani, P., Springell, K., Kamal, M., Ramesar, R., Mackey, D., Moore, A., Mukhopadhyay, R., Webster, A., Black, G., O'Sullivan, J., Bhattacharya, S., Pierce, E., Beggs, J. & Inglehearn, C (2010). Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat, 31(5), E1361-76. eScholarID:83930 | PMID:20232351 | DOI:10.1002/humu.21236
  • Whibley, A., Urquhart, J., Dore, J., Willatt, L., Parkin, G., Gaunt, L., Black, G., Donnai, D. & Raymond, F (2010). Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. Eur J Hum Genet, eScholarID:83928 | PMID:20485326 | DOI:10.1038/ejhg.2010.41

2009

  • Burkitt Wright, E., Perveen, R., Clayton, P., Hall, C., Costa, T., Procter, A., Giblin, C., Donnai, D. & Black, G (2009). X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. Clin Dysmorphol, 18(4), 218-21. eScholarID:83934 | PMID:19654509 | DOI:10.1097/MCD.0b013e32832d06f0
  • Davidson, A., Millar, I., Urquhart, J., Burgess-Mullan, R., Shweikh, Y., Parry, N., O'Sullivan, J., Maher, G., McKibbin, M., Downes, S., Lotery, A., Jacobson, S., Brown, P., Black, G. & Manson, F (2009). Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet, 85(5), 581-92. eScholarID:83932 | PMID:19853238 | DOI:10.1016/j.ajhg.2009.09.015
  • Giorda, R., Bonaglia, M., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S., Vitello, G., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P., Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B. & Zuffardi, O (2009). Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet, 85(3), 394-400. eScholarID:83933 | PMID:19716111 | DOI:10.1016/j.ajhg.2009.08.001
  • Hanson, D., Murray, P., Sud, A., Temtamy, S., Aglan, M., Superti-Furga, A., Holder, S., Urquhart, J., Hilton, E., Manson, F., Scambler, P., Black, G. & Clayton, P (2009). The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet, 84(6), 801-6. eScholarID:83937 | PMID:19481195 | DOI:10.1016/j.ajhg.2009.04.021
  • Hilton, E, Johnston, J, Whalen, S, Okamoto, N, Hatsukawa, Y, Nishio, J, Kohara, H, Hirano, Y, Mizuno, S, Torii, C, Kosaki, K, Manouvrier, S, Boute, O, Perveen, R, Law, C, Moore, A, Fitzpatrick, D, Lemke, J, Fellmann, F, Debray, F, Dastot-Le-Moal, F, Gerard, M, Martin, J, Bitoun, P, Goossens, M, Verloes, A, Schinzel, A, Bartholdi, D, Bardakjian, T, Hay, B, Jenny, K, Johnston, K, Lyons, M, Belmont, J, Biesecker, L, Giurgea, I, Black, GCM. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet, eScholarID:1d20651 | DOI:10.1038/ejhg.2009.52
  • Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., Boute, O., Perveen, R., Law, C., Moore, A., Fitzpatrick, D., Lemke, J., Fellmann, F., Debray, F., Dastot-Le-Moal, F., Gerard, M., Martin, J., Bitoun, P., Goossens, M., Verloes, A., Schinzel, A., Bartholdi, D., Bardakjian, T., Hay, B., Jenny, K., Johnston, K., Lyons, M., Belmont, J., Biesecker, L., Giurgea, I. & Black, G (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet, 17(10), 1325-35. eScholarID:83938 | PMID:19367324 | DOI:10.1038/ejhg.2009.52
  • Urquhart JE, Black GCM, Clayton-Smith J. (2009). 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet, eScholarID:1d20649 | DOI:10.1016/j.ejmg.2009.06.003

2008

  • Banerjee I, Hanson DDE, Perveen R, Whatmore AJ, Black GCM, Clayton PE. (2008). Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene. Eur J Endocrinol, 158( 4), 473-477. eScholarID:1d18726 | DOI:10.1530/EJE-07-0769
  • Burgess, R, Millar, I, Leroy, B, Urquhart, JE, Fearon, I, De Baere, E, Brown, P, Robson, A, Wright, G, Kestelyn, P, Holder, G, Webster, A, Manson, FDC, Black, GCM. (2008). Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet, 82( 1), 19-31. eScholarID:1d18788 | DOI:10.1016/j.ajhg.2007.08.004
  • Fantes, J., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D. & Black, G (2008). FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet, 82(4), 916-26. eScholarID:83940 | PMID:18374296 | DOI:10.1016/j.ajhg.2008.02.007
  • Lo, I, Brewer, C, Shannon, N, Shorto, J, Tang, B, Black, GCM, Soo, M, Ng, D, Lam, S, Kerr, B. (2008). Severe neonatal manifestations of Costello syndrome. J Med Genet, 45( 3), 167-71. eScholarID:1d20658 | DOI:10.1136/jmg.2007.054411
  • McAlinden, A., Majava, M., Bishop, P., Perveen, R., Black, G., Pierpont, M., Ala-Kokko, L. & Männikkö, M (2008). Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat, 29(1), 83-90. eScholarID:83944 | PMID:17721977 | DOI:10.1002/humu.20603
  • Newman, W., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., Morara, S., Novelli, A., Liu, X., Siminovitch, K., Mundlos, S., Tassabehji, M. & Black, G (2008). Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am J Med Genet A, 146A(23), 3034-7. eScholarID:83939 | PMID:19006212 | DOI:10.1002/ajmg.a.32564
  • Sivaprasad S, Kung B, Robson A, Black GCM, Webster A, Bird A, Egan C. (2008). A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation. Clin Experiment Ophthalmol, 36( 1), 92-3. eScholarID:1d20657 | DOI:10.1111/j.1442-9071.2007.01656.x

2007

  • Boland, E., Clayton-Smith, J., Woo, V., McKee, S., Manson, F., Medne, L., Zackai, E., Swanson, E., Fitzpatrick, D., Millen, K., Sherr, E., Dobyns, W. & Black, G (2007). Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet, 81(2), 292-303. eScholarID:83945 | PMID:17668379 | DOI:10.1086/519999
  • Cilliers DD, Parveen R, Clayton PE, Cairns S, Clarke S, Shalet SM, Black GCM, Newman WG, Clayton-Smith J. (2007). A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. European Journal of Medical Genetics, eScholarID:1d15561
  • Hilton E, Black GCM, Manson FDC, Schorderet D, Munier F. (2007). De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. Br J Ophthalmol, 91(8), 1083-1084. eScholarID:1d16321 | DOI:10.1136/bjo.2006.103283
  • Jamieson, R, Farrar, N, Stewart, K, Perveen, R, Mihelec, M, Carette, M, Grigg, J, McAvoy, J, Lovicu, F, Tam, P, Scambler, P, Lloyd, I, Donnai, D, Black, GCM, Black, G. (2007). Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Hum Mutat, eScholarID:1d31380
  • Joy T, Cao H, Black GCM, Malik RA, Charlton-Menys V, Hegele R, Durrington PN. (2007). Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis, 2, eScholarID:1d19754 | DOI:10.1186/1750-1172-2-49
  • Kantarci, S, Al-Gazali, L, Hill, R, Donnai, D, Black, G, Black, GCM, Bieth, E, Chassaing, N, Lacombe, D, Devriendt, K, Teebi, A, Loscertales, M, Robson, C, Liu, T, Maclaughlin, D, Noonan, K, Russell, M, Walsh, C, Donahoe, P, Pober, B. (2007). Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet, 39( 8), 957-959. eScholarID:1d31427
  • Leroy BP, Kailasanathan A, De Laey JJ, Black GCM, Manson FDC. (2007). Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. Br J Ophthalmol, 91(1), eScholarID:1d14002 | DOI:10.1136/bjo.2006.101915
  • McAlinden A, Majava M, Bishop PN, Bishop PN, Perveen R, Black GCM, Pierpont ME, Ala-Kokko L, Männikkö M. (2007). Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat, eScholarID:1d16483
  • Perveen R, Favor J, Jamieson R, Ray DW, Black GCM. (2007). A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. Hum Mol Genet, 16( 9), 1030-8. eScholarID:1d31397
  • Shu X, Black GCM, Rice J, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright A. (2007). RPGR mutation analysis and disease: an update. Hum Mutat, 28( 4), 322-8. eScholarID:1d31316
  • Tang B, Reardon W, Black GCM, Kerr B. (2007). Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. Clin Dysmorphol, 16( 3), 203-6. eScholarID:1d31399

2006

  • Boutboul S, Black GCM, Moore J, Sinton J, Menasche M, Munier F, Laroche L, Abitbol M, Schorderet D. (2006). A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat, 27( 6), 553-7. eScholarID:1d30854
  • Chakarova, C, Cherninkova, S, Tournev, I, Waseem, N, Kaneva, R, Jordanova, A, Veraitch, B, Gill, B, Colclough, T, Nakova, A, Oscar, A, Mihaylova, V, Nikolova-Hill, A, Wright, A, Black, GCM, Ramsden, S, Kremensky, I, Bhattacharya, S. (2006). Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Mol Vis, 12, 909-14. eScholarID:1d30515
  • Kerr, B, Delrue M-A, Sigaudy S, Perveen, R, Marche M, Burgelin I, Stef M, Tang B, Eden, OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai, D, Stewart F, Raoul Hennekam, Hélène Cavé, Alain Verloes, Philip N, Lacombe D, Levy N, Arveiler B, Black, GCM. (2006). Genotype- phenotype correlation in Costello syndrome; HRAS mutation analysis in 43 cases. J Med Genet, 43, 401-405. eScholarID:1d13046
  • Khan A, Chandler KE, Pimenides D, Black GCM, Manson FDC. (2006). Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? British Journal Of Ophthalmology, 90(3), 390-391. eScholarID:1d27308 | DOI:10.1136/bjo.2005.080085
  • Michaelides M, Urquhart JE, Holder G, Restori M, Kayali N, Manson FDC, Black GCM. (2006). Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. Am J Ophthalmol, 141( 2), 418-20. eScholarID:1d13979
  • Mukhopadhyay, A, Nikopoulos, K, Maugeri, A, de Brouwer, A, van Nouhuys, C, Boon, C, Perveen, R, Zegers, H, Wittebol-Post, D, van den Biesen, P, van der Velde-Visser, S, Brunner, H, Black, GCM, Hoyng, C, Cremers, F. (2006). Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci, 47( 8), 3565-72. eScholarID:1d30568
  • Urquhart JE, Biswas S, Black GCM, Munier F, Sutphin J. (2006). Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. Br J Ophthalmol, 90( 11), eScholarID:1d31459

2005

  • Huber, C, Dias-Santagata, D, Glaser, A, O'Sullivan, J, Brauner, R, Wu, K, Xu, X, Pearce, K, Wang, R, Uzielli, M, Dagoneau, N, Chemaitilly, W, Superti-Furga, A, Dos Santos, H, Mégarbané, A, Morin, G, Gillessen-Kaesbach, G, Hennekam, R, Van der Burgt, I, Black, GCM, Clayton, PE, Read, A, Le Merrer, M, Scambler, P, Munnich, A, Pan, Z, Winter, R, Cormier-Daire, V. (2005). Identification of mutations in CUL7 in 3-M syndrome. Nat Genet, 37( 10), 1119-24. eScholarID:1d30314
  • Johnston, et al. (2005). Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet, 76( 4), 609-22. eScholarID:1d30855
  • Manson FDC, Trump D, Read AP, Black GCM. (2005). Inherited eye disease: cause and late effect. Trends in Molecular Medicine, 11(10), 449-455. eScholarID:1d11581
  • McCann E, Kaye S, Newman W, Norbury G, Black GCM, Ellis I. (2005). Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. Am J Med Genet A, 138( 3), 278-81. eScholarID:1d31529

2004

  • Kolehmainen J, Wilkinson R, Lehesjoki A, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin A, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi E, Warburg M, Fryns J, Norio R, Black GCM, Manson FDC. (2004). Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet, 75(1), 122-127. eScholarID:1d10677 | DOI:10.1086/422197
  • Ng, D, Thakker, NS, Corcoran, C, Donnai, D, Perveen, R, Schneider, A, Hadley, D, Tifft, C, Zhang, L, Wilkie, A, van der Smagt, J, Gorlin, R, Burgess, S, Bardwell, V, Black, GCM, Biesecker, L. (2004). Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet, 36( 4), 411-6. eScholarID:1d10680 | DOI:10.1038/ng1321
  • Quinn S, Black GCM, Biswas S, Clayton-Smith J, Lloyd I. (2004). Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. Ophthalmic Genet, 25( 4), 277-83. eScholarID:1d10672
  • Toomes, C, Bottomley, H, Jackson, R, Towns, K, Scott, S, Mackey, D, Craig, J, Jiang, L, Yang, Z, Trembath, R, Woodruff, G, Gregory-Evans, C, Gregory-Evans, K, Parker, M, Black, GCM, Downey, L, Zhang, K, Inglehearn, C. (2004). Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet, 74( 4), 721-30. eScholarID:1d10678
  • Toomes, C, Bottomley, H, Scott, S, Mackey, D, Craig, J, Appukuttan, B, Stout, J, Flaxel, C, Zhang, K, Black, GCM, Fryer, A, Downey, L, Inglehearn, C. (2004). Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci, 45( 7), 2083-90. eScholarID:1d10675
  • Urquhart, JE, Leroy, B, Hart-Holden, N, Lafaut, B, Loeys, B, Messiaen, L, Perveen, R, Reddy, M, Bhattacharya, S, Traboulsi, E, Baralle, D, De Laey, J, Puech, B, Kestelyn, P, Moore, A, Manson, FDC, Black, GCM. (2004). Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci, 45( 10), 3683-9. eScholarID:1d10674 | DOI:10.1167/iovs.04-0550

2003

  • Astuti, D, Hart-Holden, N, Latif, F, Lalloo, F, Black, GCM, Lim, C, Moran, A, Grossman, A, Hodgson, S, Freemont, AJ, Ramsden, R, Eng, C, Evans, DDGR, Maher, E. (2003). Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf), 59( 6), 728-33. eScholarID:1d29418
  • Black, GCM, Mazerolle, C, Wang, Y, Campsall, K, Petrin, D, Leonard, B, Damji, K, Evans, DDGR, McLeod, D, Wallace, V. (2003). Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development. Hum Mol Genet, 12( 24), 3269-76. eScholarID:1d13972 | DOI:10.1093/hmg/ddg356
  • Chandler KE, Kidd A, Al-Gazali L, Black GCM, Clayton-Smith J. (2003). Diagnostic criteria, clinical characteristics and natural history of Cohen Syndrome. J Med Genet, 40, 233-41. eScholarID:1d6367
  • Jamieson RV, Gaunt L, Donnai D, Black GCM, Kerr B, Secko O. (2003). Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis. Br J Opthalmol, 87(5), 646-8. eScholarID:1d6283
  • Jamieson RV, Kerr B, Donnai D, Black GCM. (2003). Karyotype analysis is essential where ocular anomalies are associated with other malformations or intellectual handicap. Br J Opthalmol, 87, 646-48. eScholarID:1d6365
  • Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GCM. (2003). Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. Br J Opthalmol, 87, 411-2. eScholarID:1d6369
  • Kerr, B, Mucchielli ML, Sigaudy S, Fabre M, Saunier P, Creusy P, Voelckel MA, , Howard E, Elles, R, Eden, OB, Black, GCM, Philip N. (2003). Is the locus for Costello syndrome on 11p? J Med Genet, 40, 469-71. eScholarID:1d6363
  • Kolehmainen J, Black, GCM, Saarinen A, Chandler K, Träskelin A-L, Perveen, R, Kivitie-Kallio S, Norio R, Warburg M, Fryns J-P, de la Chapelle A , Lehesjoki A-E. (2003). Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport. Am J Hum Genet, 72, 1359-1370. eScholarID:1d6361
  • Lyon MF, Jamieson RV, Perveen, R, Glenister PH, Griffiths R, Boyd Y, Glimcher L, Favor J, Munier FL, Black, GCM. (2003). A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. Hum Mol Genet, 12, 585-94. eScholarID:1d6371
  • Lyon, M, Jamieson, R, Perveen, R, Glenister, P, Griffiths, R, Boyd, Y, Glimcher, L, Favor, J, Munier, F, Black, GCM. (2003). A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. Hum Mol Genet, 12( 6), 585-94. eScholarID:1d13973 | DOI:10.1093/hmg/12.6.585

2002

  • Elson E, Perveen R, Donnai D, Wall S, Black GCM. (2002). De novo GL13 mutation in acrocallosal syndrome: broadening the phenotypic specturm of GL13 defects and overlap with murine models. Journal of Medical Genetics, 39, 804-806. eScholarID:1d5279
  • Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJD, Black GCM, McLean WHI. (2002). A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. British Journal Of Ophthalmology, 86, 729-732. eScholarID:1d23903
  • Jamieson, R, Perveen, R, Kerr, B, Carette, M, Yardley, J, Heon, E, Wirth, M, van Heyningen, V, Donnai, D, Munier, F, Black, GCM. (2002). Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet, 11( 1), 33-42. eScholarID:1d13975 | DOI:10.1093/hmg/11.1.33
  • Jamieson, RV, Perveen, R, Kerr, B, Carette, MJM, Urquhart, JE, Heon, E, Wirth, MG, van Heyningen, Donnai, D, Munier, F, Black, GCM. (2002). Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Human Molecular Genetics, 11, 1-10. eScholarID:1d3284
  • KE Chandler, Biswas S, IC Lloyd, Parry N, Clayton-Smith J, Black GCM. (2002). The ophthalmic findings in Cohen syndrome. British Journal Of Ophthalmology, 86, 1395-1398. eScholarID:1d4423
  • Mohyuddin, A, Neary, WJ, Wallace, A, Wu, CL, Purcell, S, Reid, H, Ramsden, RT, Read, AP, Black, GCM, Evans, DDGR. (2002). Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. Journal Of Medical Genetics, 39, 315-322. eScholarID:1d3288
  • Munier, FL, Frueh, BE, Othenin-Girard, P, Uffer, S, Cousin, P, Wang, MX, Heon, E, Black, GCM, Blasi, MA, Balestrazzi, E, Lorenz, B, Escoto, B, Barraquer, R, Hoeltzenbein, M, Gloor, B, Fossarello, M, Singh, AD, Arsenijevic, Y, Zografos, L, Schorderet, DF. (2002). BIGH3 mutation spectrum in corneal dystrophies. Investigative Ophthalmology and Vision Sciences, 43, 949-954. eScholarID:1d23907

2001

  • Biswas, S, Munier, FL, Urquhart, JE, Hart-Holden, N, Perveen, R, Cousin, P, Sutphin, JE, Noble, B, Batterbury, M, Kielty, CM, Hackett, A, Bonshek, RR, Ridgway, A, McLeod, D-, Sheffield, VC, Stone, EM, Schorderet, DF, Black, GCM. (2001). Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Human Molecular Genetics, 10, 2415-2423. eScholarID:1d23792
  • Black GCM, Donnai D. (2001). Genetic testing - swings and roundabouts: a view from the United Kingdom. British Journal Of Ophthalmology, 85, 1402-1404. eScholarID:1d3299
  • Downes S, Black GCM, Hyman N, Simmonds M, Morris J, Barton C. (2001). Visual loss due to progressive multifocal leukoencephalopathy in a congenital immunodeficiency disorder. Arch Ophthalmol, 119( 9), 1376-8. eScholarID:1d30422
  • Gong, et al. (2001). LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development. Cell, 107, 513-523. eScholarID:1d2101
  • Toomes, C, Marchbank, NJ, Mackey, DA, Craig, JE, Newbury-Ecob, RA, Bennett, CP, Vize, CJ, Desai, SP, Black, GCM, Patel, N, Teimory, M, Markham, AF, Inglehearn, CF, Churchill, AJ. (2001). Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Human Molecular Genetics, 10, 1369-1378. eScholarID:1d3304
  • Watson P, Black GCM, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. (2001). Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet, 38( 4), 224-8. eScholarID:1d30446

2000

  • Clayton-Smith J, Watson P, Ramsden S, Black GCM. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet, 356, 830-832. eScholarID:1d3293
  • Clayton-Smith J, Watson P, Ramsden S, Black GCM. (2000). Somatic mutation in the MECP2 gene may be a cause of non-lethal neurodevelopmental diosrder in males. Lancet, 356(9232), 830-832. eScholarID:1d4013
  • Downes SM, Black GCM. (2000). Optic neuropathy as a presenting feature of multifocal leucencephalitis. Archives of Ophthalmology, eScholarID:1d4471
  • Murton NJ, Rehman I, Black GCM, Inglehearn CF, Churchill AJ. (2000). A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia. Hum Mutat, 15, eScholarID:1d4490
  • Perveen, R, Lloyd IC , Clayton-Smith, J, Churchill A, Van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr, B, Winter R, Black, GCM. (2000). Phentotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Investigative Ophthalmology and Vision Sciences, 41, 2456-2460. eScholarID:1d4496
  • Ridgeway AEA, Akhtar S, Munier FL, Schorderet DF, Stewart H, Perveen, R, Bonshek, RR, Odenthal MTP, Dixon, MJ, Barraquer R, Escoto R, Black, GCM. (2000). An ultrastructual and molecular evaluation of Bowman's layer corneal dystrophies types I and II. Investigative Ophthalmology and Vision Sciences, 41, 3286-3292. eScholarID:1d4499
  • Ridgeway AEA, Black GCM, Stewart H. (2000). A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetrical, late-onset form of lattice corneal dystrophy: Author's reply to Schmitt-Bernard. Ophthalmology, 107, eScholarID:1d4500
  • Ridgway AEA, Black GCM, Stewart H. (2000). Lattice corneal dystrophy. Ophthalmology, 107, eScholarID:1d33363
  • Ridgway, AEA, Akhtar, S, Munier, FL, Schorderet, DF, Stewart, H, Perveen, R, Bonshek, RR, Odenthal, MTP, Dixon, M, Barraquer, R, Escoto, R, Black, GCM. (2000). Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin? Investigative Ophthalmology and Vision Sciences, 41, 3286-3292. eScholarID:1d3246
  • Stewart HS, Perveen R, Ridgway AEA, Bonshek RR, Black GCM. (2000). Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. British Journal Of Ophthalmology, 84, 390-394. eScholarID:1d3335

1999

  • Black GCM, Perveen R, Bonshek RR, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D-. (1999). Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Human Molecular Genetics, 8, 2031-2035. eScholarID:1d3337
  • Black GCM, Perveen R, W Wiszniewski, CL Dodd, Donnai D, McLeod D-. (1999). A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities ocalizing to a f-cM region of chromosome fq13-q14. Ophthalmology, 106, 2074-2081. eScholarID:1d4409
  • Black GCM, Perveen R, Wiszniewski W, Dodd C, Donnai D, McLeod D-. (1999). A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmology, 106, 2074-2081. eScholarID:1d3353
  • Doward W, Perveen R, Lloyd IC, Ridgway AEA, Wilson L, Black GCM. (1999). A mutation in the RIEG1 gene associated with Peters' anomaly. Journal Of Medical Genetics, 36, 152-155. eScholarID:1d23934
  • Evans DDGR, Lye R, Neary W, Black GCM, Strachan T, Wallace ST, Ramsden RT. (1999). Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma. Journal Of Neurology,neurosurgery And Psychiatry, 66, 764-767. eScholarID:1d3359
  • Perveen R, Hart-Holden N, Dixon MJ, W Wiszniewski, AE Fryer, HG Bruner, AJLH Pinkners, SEC van Beersum, Black GCM. (1999). Refined genetic and physical localisation of Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2-2.5cM region of chromosome 5q14.3. Genomics, 57, 219-226. eScholarID:1d4421
  • Stewart H, Black GCM, Donnai D, Bonshek RR, McCarthy J, Morgan S, Dixon MJ, Ridgway AE. (1999). A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology, 106, eScholarID:1d23921
  • Stewart HS, Ridgway AE, Dixon MJ, Bonshek RR, Perveen R, Black GCM. (1999). Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene - lessons for corneal anyloidogenesis. Human Mutation, 14, 129-132. eScholarID:1d3339

1998

  • Black GCM, Perveen R, E Hatchwell, A Reck, Clayton-Smith J. (1998). Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). Journal Of Medical Genetics, 35, 985-988. eScholarID:1d4419
  • CL Wu, Thakker NS, W Neary, Black GCM, R Lye, RT Ramsden, Read AP, Evans DDGR. (1998). Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. Journal Of Medical Genetics, 35, 973-977. eScholarID:1d4417

1996

  • Black GCM, K Morten, A Laborde, J Poulton. (1996). Leber's hereditary Optic neuropathy:heteroplasmy is likely ot be significant in the expression of LHON in families with the 3460 ND1 mutation. Journal Of Ophthalmology, 80, 915-917. eScholarID:1d4414

  • Urquhart, J., Black, G. & Clayton-Smith, J 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet, 52(6), 454-7. eScholarID:83936 | PMID:19576302 | DOI:10.1016/j.ejmg.2009.06.003

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