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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
Molecular Genetics and Metabolism, Volume 109, No. 3, Year 2013
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Description
Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the small joints are additional features of BCS. Transcriptional regulation of extracellular matrix components, particularly of fibrillar collagens, by PRDM5 and ZNF469 suggests that they might be part of the same pathway, the disruption of which is likely to cause the features of BCS. In the present study, we have performed molecular analysis of a cohort of 23 BCS affected patients on both ZNF469 and PRDM5, including those who were clinically reported previously [1]; the clinical description of three additional patients is reported in detail. We identified either homozygous or compound heterozygous mutations in ZNF469 in 18 patients while, 4 were found to be homozygous for PRDM5 mutations. In one single patient a mutation in neither ZNF469 nor PRDM5 was identified. Furthermore, we report the 12 novel ZNF469 variants identified in our patient cohort, and show evidence that ZNF469 is a single exon rather than a two exon gene. © 2013 Elsevier Inc.
Authors & Co-Authors
Rohrbach, Marianne
Switzerland, Zurich
Kinderspital Zürich
Spencer, Helen L.
United Kingdom, Manchester
The University of Manchester
United Kingdom, London
St Mary's Hospital
Porter, Louise F.
United Kingdom, Manchester
The University of Manchester
United Kingdom, London
St Mary's Hospital
Burkitt-Wright, Emma M.M.
United Kingdom, Manchester
The University of Manchester
United Kingdom, London
St Mary's Hospital
Bürer, Céline
Switzerland, Zurich
Kinderspital Zürich
Janecke, Andreas Robert
Austria, Innsbruck
Medizinische Universitat Innsbruck
Bakshi, Madhura
Australia, Sydney
The Children's Hospital at Westmead
Sillence, David Owen
Australia, Sydney
The Children's Hospital at Westmead
Al-Hussain, Hailah M.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Baumgartner, Matthias R.
Switzerland, Zurich
Kinderspital Zürich
Steinmann, Beat U.
Switzerland, Zurich
Kinderspital Zürich
Black, Graeme C. M.
United Kingdom, Manchester
The University of Manchester
United Kingdom, London
St Mary's Hospital
Manson, Forbes D.C.
United Kingdom, Manchester
The University of Manchester
United Kingdom, London
St Mary's Hospital
Giunta, Cecilia
Switzerland, Zurich
Kinderspital Zürich
Statistics
Citations: 59
Authors: 14
Affiliations: 6
Identifiers
Doi:
10.1016/j.ymgme.2013.04.014
ISSN:
10967192
e-ISSN:
10967206
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cohort Study