Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

ABSTRACT:

Background

Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical information is limited or unspecific as well as in cases of genetic heterogeneity.

Methods

We identified a consanguineous Pakistani family segregating an autosomal recessive phenotype characterized by muscular hypertrophy, mild mental retardation and skeletal abnormalities. The available clinical information was incomplete and we applied whole exome sequencing in an affected family member for the identification of candidate gene variants.

Results

Exome sequencing identified a previously unreported homozygous mutation in the acceptor splice site of intron 5 in

SUBMITTER: Schuster J 

PROVIDER: S-EPMC4076434 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature