Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

ABSTRACT:

Purpose

CHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome.

Methods

We performed whole-exome sequencing (WES) on 28 families from which at least one individual presented with features highly suggestive of CHARGE syndrome.

Results

Pathogenic variants in CHD7 were present in 15 of 28 individuals (53.6%), whereas 4 (14.3%)

SUBMITTER: Moccia A 

PROVIDER: S-EPMC6034995 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature