Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract

摘要

Purpose Due to high genetic heterogeneity, to exclude known mutations and map novel mutations in autosomal dominant congenital cataract (ADCC) using conventional candidate gene screening requires laborious laboratory work. We attempted to use a cost-effective exome sequencing strategy to identify disease-causing mutations in an ADCC pedigree.