Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

Lina Basel-Vanagaite, Revital Attia, Akemi Ishida-Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik-Chor, Margarita Indelman, Alexander Zvulunov, Shirley Saban, Nurit Magal, Eli Sprecher, Mordechai Shohat

Research output: Contribution to journalArticlepeer-review

158 Scopus citations

Abstract

In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, characterized by congenital ichthyosis associated with abnormal hair. Using homozygosity mapping, we mapped the disease locus to 11q24.3q25. We screened the ST14 gene, which encodes matriptase, since transplantation of skin from matriptase-/--knockout mice onto adult athymic nude mice has been shown elsewhere to result in an ichthyosislike phenotype associated with almost complete absence of erupted pelage hairs. Mutation analysis revealed a missense mutation, G827R, in the highly conserved peptidase S1-S6 domain. Marked skin hyperkeratosis due to impaired degradation of the stratum corneum corneodesmosomes was observed in the affected individuals, which suggests that matriptase plays a significant role in epidermal desquamation.

Original languageEnglish
Pages (from-to)467-477
Number of pages11
JournalAmerican Journal of Human Genetics
Volume80
Issue number3
DOIs
StatePublished - 1 Jan 2007
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase'. Together they form a unique fingerprint.

Cite this