Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

doi:10.1038/ejhg.2014.213

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Article

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

European journal of human genetics : EJHG - 1 Jul 2015

Courcet Jean-Benoît, Elalaoui Siham Chafai, Duplomb Laurence, Tajir Mariam, Rivière Jean-Baptiste, Thevenon Julien, Gigot Nadège, Marle Nathalie, Aral Bernard, Duffourd Yannis, Sarasin Alain, Naim Valeria, Courcet-Degrolard Emilie, Aubriot-Lorton Marie-Hélène, Martin Laurent, Abrid Jamal Eddin, Thauvin Christel, Sefiani Abdelaziz, Vabres Pierre, Faivre Laurence

Abstract excerpt

SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal...

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Identifiers

PMID: 25315659
DOI: 10.1038/ejhg.2014.213
PMCID: PMC4463501

Genes

SASH1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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