Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.

ABSTRACT:

Background

Few genes responsible for distal arthrogryposis type 1 are known, although genes coding for the proteins in the sarcomere have been implicated in other types of distal arthrogryposis. Cost-effective sequencing methods are now available to examine all genes in the human genome for the purpose of establishing the genetic basis of musculoskeletal disorders.

Methods

A multigenerational family with distal arthrogryposis type 1 characterized by clubfoot and mild hand contractures was identified, and exome sequencing was performed on DNA from one of the affected family members. Linkage analysis was used to confirm whether a genetic variant segregated with distal arthrogryposis.

Results

Exome sequencing identified 573 novel variants that were not present in control

SUBMITTER: Alvarado DM 

PROVIDER: S-EPMC3102311 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature