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Article

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

Genomics - 1 Apr 2012

Cabral Rita M, Kurban Mazen, Wajid Muhammad, Shimomura Yutaka, Petukhova Lynn, Christiano Angela M

Abstract excerpt

Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A. CHST8 encodes a Golgi transmembrane...

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Source

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Identifiers

PMID: 22289416
DOI: 10.1016/j.ygeno.2012.01.005
PMCID: PMC4362535

Genes

CHST8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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