Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

ABSTRACT:

Background

Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases.

Methods

We performed whole exome sequencing (WES) of 52 patients with clinical presentation of arthrogryposis from 48 different families.

Results

Affected individuals from 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous variants of cholinergic γ nicotinic receptor (CHRNG, 6 subjects) and endothe

SUBMITTER: Bayram Y 

PROVIDER: S-EPMC4731160 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature