Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing.
Yazhou Huang, Xinwei Leng, Jibo Zhang et al.
✦ AI-curated · Sources linked
From the abstract
Congenital cataract (CC) is an ophthalmic disorder diagnosed at birth or during early infancy, characterized by severe visual impairment and potential blindness. This study aimed to evaluate the pathogenicity of two variants: GJA8 c.201C>G (p.Asp67Glu) and CRYBB2 c.325A>T (p.Ile109Phe).
Reported results
Two likely pathogenic missense variants were identified in two unrelated families: c.201C>G (p.Asp67Glu) in exon 2 of GJA8, which encodes Connexin 50 (Cx50) protein, was paternally inherited in family 1, whereas c.325A>T (p.Ile109Phe) in exon 4 of CRYBB2 occurred de novo in family 2. The c.201C>G (p.Asp67Glu) variant mapped to the first extracellular loop (EL1) of Cx50.
Authors' conclusions
This study expands the pathogenic spectrum of congenital cataract. Our findings provide novel insights into the molecular diagnosis of CC and have important implications for genetic counseling.