Analysis of novel compound heterozygous variants of the GJA8 gene in a child with congenital cataract

Objective: To explore the genetic basis for child with congenital cataract.

Methods: The child was subjected to next-generation sequencing. Candidate variant was verified by Sanger sequencing of his family members.

Results: The proband was found to harbor novel heterozygous variants of c.855del and c.872dup of the GJA8 gene, which were inherited from his father and mother, respectively. Neither of these two variants has been reported. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the c.855del and c.872dup variants were classified as likely pathogenic (PVS1_S+PM2+PP4) and pathogenic (PVS1_S+PM2+PM3+PP4), respectively.

Conclusions: The c.855del and c.872dup variants of the GJA8 gene probably underlay the congenital cataract in this patient.