Vanita Berry1, Nikolas Pontikos1,2, Lubica Dudakova3, Anthony T Moore1,4, Roy Quinlan5, Petra Liskova3,6, Michel Michaelides1,2. 1. UCL Institute of Ophthalmology, University College London, London, UK. 2. Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK. 3. Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. 4. Ophthalmology Department, University of California School of Medicine, San Francisco, California, USA. 5. School of Biological and Medical Sciences, University of Durham, Durham, UK. 6. Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Abstract
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.
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.
Authors: Celia Fernández-Alcalde; María Nieves-Moreno; Susana Noval; Jesús M Peralta; Victoria E F Montaño; Ángela Del Pozo; Fernando Santos-Simarro; Elena Vallespín Journal: Genes (Basel) Date: 2021-04-16 Impact factor: 4.096