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Durham University

Department of Biosciences

Profile

Publication details for Prof Roy Andrew Quinlan

Berry, Vanita, Ionides, Alex, Pontikos, Nikolas, Moghul, Ismail, Moore, Anthony T., Quinlan, Roy A. & Michaelides, Michel (2020). Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. Genes 11(5): 512.

Author(s) from Durham

Abstract

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 isolated case. Family A, with a novel missense variant (c.178G>C,
p.Gly60Arg) in GJA8 with lamellar cataract; family B, with a recurrent variant in GJA8 (c.262C>T,
p.Pro88Ser) associated with nuclear cataract; and family C, with a novel variant in GJA3 (c.771dupC,
p.Ser258GlnfsTer68) causing a lamellar phenotype. Individual D had a novel variant in GJA3
(c.82G>T, p.Val28Leu) associated with congenital cataract. Each sequence variant was found to cosegregate
with disease. Here, we report three novel and one recurrent disease-causing sequence
variant in the gap junctional protein encoding genes causing autosomal dominant congenital
cataract. Our study further extends the mutation spectrum of these genes and further facilitates
clinical diagnosis. A recurrent p.P88S variant in GJA8 causing isolated nuclear cataract provides
evidence of further phenotypic heterogeneity associated with this variant.