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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
Open accessAbstract
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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“Because not all BCS patients harbored ZNF469 mutations, a second locus for BCS was suspected.This was confirmed by the discovery of mutations in PRDM5 (MIM 614161) [Burkitt Wright et al., 2011].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Burkitt Wright et al., 2011
In the citing paper
“Keratoconus has also been diagnosed in a young adult, heterozygous for a PRDM5 mutation [Burkitt Wright et al., 2011].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Burkitt Wright et al., 2011
In the citing paper
“To provide a comprehensive overview of the clinical phenotype of BCS, we reviewed the data on 51 patients (ZNF469: n¼ 32; PRDM5: n ¼ 19) (Table S1) [Al-Hussain et al., 2004;Abu et al., 2008;Christensen et al., 2010;Khan et al., 2010;Burkitt Wright et al., 2011;Al-Owain et al., 2012;Aldahmesh et al., 2012;Rohrbach et al., 2013;Ramappa et al., 2014;Avgitidou et al., 2015b;Porter et al., 2015].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Burkitt Wright et al., 2011
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Metadata
- 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
- 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)
- 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
- 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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