Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

ABSTRACT:

Objective

We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51.

Methods

We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server.

Results

We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion

SUBMITTER: Meneret A 

PROVIDER: S-EPMC4105259 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature