Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.

ABSTRACT:

Background

We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected symptoms of myalgia and cramps since adolescence. Our aim was to identify deleterious mutations that segregate with the affected individuals in this family.

Methods

Exome sequencing was performed on five cases, which included three affected G1 siblings and two pauci-symptomatic G2 offspring. As controls we included an unaffected G1 sibling and a spouse of one of the G1 affected individuals. Homozygous or potentially compound heterozygous variants that were predicted to be functional and segregated with the affected G1 siblings, were furth

SUBMITTER: Jalali-Sefid-Dashti M 

PROVIDER: S-EPMC5992709 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature