Cited by 135Corneal surgery and disordersConnective tissue disorders researchOcular Disorders and Treatments

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

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Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.·2011·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2011.05.007PMC PMC3113239

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Abstract

Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS), an autosomal-recessive generalized connective tissue disorder. Enucleation is frequently the only management option for this condition, resulting in blindness and psychosocial distress. Even when the cornea remains grossly intact, visual function could also be impaired by a high degree of myopia and keratoconus. Deafness is another common feature and results in combined sensory deprivation. Using autozygosity mapping, we identified mutations in PRDM5 in families with BCS. We demonstrate that regulation of expression of extracellular matrix components, particularly fibrillar collagens, by PRDM5 is a key molecular mechanism that underlies corneal fragility in BCS and controls normal corneal development and maintenance. ZNF469, encoding a zinc finger protein of hitherto undefined function, has been identified as a quantitative trait locus for central corneal thickness, and mutations in this gene have been demonstrated in Tunisian Jewish and Palestinian kindreds with BCS. We show that ZNF469 and PRDM5, two genes that when mutated cause BCS, participate in the same regulatory pathway.

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Authors: Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K. E., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L. G., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C., & Black, G. C. M.
Affiliations: Manchester Academic Health Science Centre (GB)
University of Manchester (GB)
University of Brescia (IT)
Manchester Royal Eye Hospital (GB)
Manchester Royal Infirmary (GB)
Royal Blackburn Teaching Hospital (GB)
National Institutes of Health (US)
Children's Hospital at Westmead (AU)
University Children's Hospital Zurich (CH)
Corresponding author: Black, Graeme C.M.
ORCID: Manson, Forbes D.C.
Zeef, Leo A.H.
Urquhart, Jill
Zoppi, Nicoletta
Banka, Siddharth
Au, Leon
Khan, Naz
Biesecker, Leslie G.
Wilson, Meredith
Rohrbach, Marianne
Colombi, Marina
Giunta, Cecilia
Black, Graeme C.M.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2011-06
Volume: 88
Issue: 6
Pages: 767-777
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2011.05.007
PMC: PMC3113239
OpenAlex: W2138624472
Cited by: 135
References: 28
Citations by year: 2026: 3 · 2025: 7 · 2024: 14 · 2023: 10 · 2022: 7 · 2021: 14 · 2020: 12 · 2019: 7 · 2018: 8 · 2017: 9 · 2016: 6 · 2015: 11 · 2014: 7 · 2013: 10 · 2012: 8
FWCI: 6.61
Type: journal article
Language: en
Update notices: erratum (2011-08-12)
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 813 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
Research Explorer (The University of Manchester) (submittedVersion)
University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
Funders: Wellcome Trust
Topics: Health Sciences › Medicine › Ophthalmology › Corneal surgery and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Health Sciences › Medicine › Ophthalmology › Ocular Disorders and Treatments
Keywords: brittle cornea syndrome, PRDM5, ZNF469, extracellular matrix, fibrillar collagen, connective tissue diseases, homozygosity mapping, central corneal thickness, keratoconus, myopia, deafness, genotype-phenotype correlation
MeSH terms: Child, DNA Mutational Analysis, DNA-Binding Proteins, Ehlers-Danlos Syndrome, Extracellular Matrix, Eye Abnormalities, Female, Humans, Joint Instability, Male, Mutation, Pedigree, Skin Abnormalities, Transcription Factors

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

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