Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the CSTA Gene Encoding Cystatin A

Abstract Acral peeling skin syndrome (APSS) is a clinically and genetically heterogeneous disorder. We used whole‐exome sequencing to identify the molecular basis of APSS in a consanguineous Jordanian‐American pedigree. We identified a homozygous nonsense mutation (p.Lys22X) in the CSTA gene, encoding cystatin A, that was confirmed using Sanger sequencing. Cystatin A is a protease inhibitor found in the cornified cell envelope, and loss‐of‐function mutations have previously been reported in two cases of exfoliative ichthyosis. Our study expands the molecular pathology of APSS and demonstrates the value of next‐generation sequencing in the genetic characterization of inherited skin diseases.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fpde.12092

Source: Pediatric Dermatology - March 28, 2013 Category: Dermatology Authors: Aleksandar L. Krunic, Kristina L. Stone, Michael A. Simpson, John A. McGrath Tags: Brief Report Source Type: research