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

作者：Krunic Aleksandar L; Stone Kristina L; Simpson Michael A; McGrath John A^*

来源：Pediatric Dermatology, 2013, 30(5): E87-E88.

DOI：10.1111/pde.12092

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.

• 出版日期2013-9