Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract

BACKGROUND: ) have been associated with autosomal dominant congenital nuclear cataract. In general, mutations in those genes that have important functions in lens development lead to congenital cataract. METHODS: We conducted whole-exome sequencing (WES) in a four-year-old male patient referred to the genetic center for genetic analysis. He had developed cataract at an early age. DNAs were extracted from the blood samples of all family members and subjected to PCR-Sanger sequencing to confirm the WES results. RESULTS: RNA and protein structure confirmed the pathogenicity of the cis-mutations. CONCLUSIONS: gene is a pathogenic variant that causes autosomal-dominant congenital nuclear cataract.