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Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the <i><scp>CSTA</scp></i> Gene Encoding Cystatin A

28 Mar 2013

Abstract excerpt

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...

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PMID: 23534700
DOI: 10.1111/pde.12092

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