Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A

Pediatr Dermatol. Sep-Oct 2013;30(5):e87-8. doi: 10.1111/pde.12092. Epub 2013 Mar 28.

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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Codon, Nonsense*
  • Consanguinity
  • Cystatin A / genetics*
  • Dermatitis, Exfoliative / genetics*
  • Dermatitis, Exfoliative / pathology
  • Family Health
  • Female
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • Skin Diseases / congenital

Substances

  • Codon, Nonsense
  • Cystatin A
  • CSTA protein, human

Supplementary concepts

  • Peeling skin syndrome, acral type