Next generation sequencing ‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

In this study, we used commercially available inherited disease NGS panels including 50 CC genes for the genetic diagnosis of 11 probands with hereditary CC. Causal variants were recognized in six families. A novelCRYGC variant, p.(Phe6Ser), was identified in two apparently unrelated families. Two additional novel variants in the crystallin genesCRYBB2 (p.[Gly149Asp]) andCRYGA (p.[Arg48Cys]) were also identified. One family carried the novel p.[Gly8_Leu11del] variant inGJA8, while another family exhibited the previously reported c.2826 ‐9G>A pathogenic change inEPHA2. Our results illustrate the utility of NGS for diagnosing CC in our population, and our results contribute to expand the mutational spectrum with four novel pathogenic variants in known CC genes.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: RESEARCH ARTICLE Source Type: research