Congenital cataracts: de novo gene conversion event in CRYBB2.

ABSTRACT:

Purpose

To identify the cause of congenital cataracts in a consanguineous family of Ashkenazi Jewish ancestry.

Methods

We performed genome-wide linkage analysis and whole-exome sequencing for the initial discovery of variants, and we confirmed the variants using gene-specific primers and Sanger sequencing.

Results

We found significant evidence of linkage to chromosome 22, under an autosomal dominant inheritance model, with a maximum logarithm of the odds (LOD) score of 3.91 (16.918 to 25.641 Mb). Exome sequencing identified three nonsynonymous changes in the CRYBB2 exon 5 coding sequence that are consistent with the sequence of the corresponding region of the pseudogene CRYBB2P1. The identification of these changes was complicated by possible mismapping of some mutate

SUBMITTER: Garnai SJ 

PROVIDER: S-EPMC4225141 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature