A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

ABSTRACT:

Background

Autosomal recessive nail dysplasia is characterized by thick and hard nails with a very slow growth on the hands and feet. Mutations in FZD6 gene were found to be associated with autosomal recessive nail dysplasia in 2011. Presently, only seven mutations have been reported in FZD6 gene; five mutations are clustered in the C-terminus, one is at the seventh transmembrane domain, and another is at the very beginning of third extracellular loop.

Methods

Whole exome sequencing (WES) was applied to the index case, her one affected sister and her healthy consanguineous parents. The mutation was verified via Sanger sequencing. Molecular dynamics simulations of the predicted structures of native and mutant proteins were compared to gain insight into the pathogenicity mecha

SUBMITTER: Saygı C 

PROVIDER: S-EPMC6332616 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature