A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
Language English Country Great Britain, England Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
- Keywords
- Congenital cataracts, LIM2, WES, whole exome sequencing,
- MeSH
- Phenotype MeSH
- Cataract congenital etiology pathology MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Mutation * MeSH
- DNA Mutational Analysis MeSH
- Eye Proteins genetics MeSH
- Prognosis MeSH
- Pedigree MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- LIM2 protein, human MeSH Browser
- Membrane Proteins MeSH
- Eye Proteins MeSH
Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family.Methods: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family.Results: A novel missense variant c.388C > T; p.(R130C) was identified in the Lens integral membrane protein (LIM2) and found to co-segregate with disease in both families.Conclusions: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families.
Department of Genetics Moorfields Eye Hospital NHS Foundation Trust London UK
Ophthalmology Department University of California School of Medicine San Francisco California USA
School of Biological and Medical Sciences University of Durham Durham UK
UCL Institute of Ophthalmology University College London London UK
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