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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Krunic AL,Stone KL,Simpson MA,McGrath JA

doi

10.1111/pde.12092

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

e87-8

issue

5

eissn

0736-8046

issn

1525-1470

journal_volume

30

pub_type

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