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Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.

Genes - 6 May 2020

Berry Vanita, Ionides Alex, Pontikos Nikolas, Moghul Ismail, Moore Anthony T, Quinlan Roy A, Michaelides Michel

Abstract excerpt

Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with autosomal dominant congenital cataract, using whole exome sequencing. We identified four different heterozygous variants, three in the large families and one in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32384692
DOI: 10.3390/genes11050512
PMCID: PMC7288463

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