A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.

ABSTRACT:

Background

To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.

Methods

Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.

Results

A novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential dia

SUBMITTER: Guo R 

PROVIDER: S-EPMC9013174 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature