Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

ABSTRACT: Isolated dystonia is a disorder characterized by involuntary twisting postures arising from sustained muscle contractions. Although autosomal-dominant mutations in TOR1A, THAP1, and GNAL have been found in some cases, the molecular mechanisms underlying isolated dystonia are largely unknown. In addition, although emphasis has been placed on dominant isolated dystonia, the disorder is also transmitted as a recessive trait, for which no mutations have been defined. Using whole-exome sequencing in a recessive isolated dystonia-affected kindred, we identified disease-segregating compound heterozygous mutations in COL6A3, a collagen VI gene associated previously with muscular dystrophy. Genetic screening of a further 367 isolated dystonia subjects revealed two additional recessive pedigrees har

SUBMITTER: Zech M 

PROVIDER: S-EPMC4457951 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature