A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.

ABSTRACT:

Purpose

To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract.

Methods

Linkage analysis was performed for the known candidate genes and whole-exome sequencing was used in two affected family members to screen for potential genetic mutations; Sanger sequencing was used to verify the mutations throughout family.

Results

A novel beaded filament structural protein 1 (BFSP1) gene missense mutation was identified. Direct sequencing revealed a heterozygous G>A transversion at c.1042 of the coding sequence in exon 7 of BFSP1 (c.1042G>A) in all affected members, which resulted in the substitution of a wild-type aspartate to an asparagine (D348N). This mutation was neither seen in unaffected family membe

SUBMITTER: Wang H 

PROVIDER: S-EPMC3874047 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature