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

Department of Ophthalmology 1st Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

Ophthalmology Department University of California School of Medicine San Francisco California USA

Research Unit for Rare Diseases Department of Paediatrics and Adolescent Medicine 1st Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

School of Biological and Medical Sciences University of Durham Durham UK

UCL Institute of Ophthalmology University College London London UK

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