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Article

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Human molecular genetics - 1 Apr 2006

Müller Felix B, Huber Marcel, Kinaciyan Tamar, Hausser Ingrid, Schaffrath Christina, Krieg Thomas, Hohl Daniel, Korge Bernhard P, Arin Meral J

Abstract excerpt

Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with recessive inheritance of EHK. Sequence analysis revealed a homozygous nonsense mutation of the KRT10...

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Source

Identifiers

PMID: 16505000
DOI: 10.1093/hmg/ddl028

Genes

KRT10

Variants

Provenance

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