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

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 11q24.3-q25. 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.

• Authors: Lina Basel-Vanagaite, Revital Attia, Akemi Ishida-Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik-Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sprecher, Mordechai Shohat
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 80 Issue 3 Pg. 467-77 (Mar 2007) ISSN: 0002-9297 [Print] United States
• PMID: 17273967 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• Serine Endopeptidases
• ST14 protein, human

Topics

• Adolescent
• Amino Acid Sequence
• Child
• Child, Preschool
• Chromosomes, Human, Pair 11 (genetics)
• Female
• Genes, Recessive
• Humans
• Hypotrichosis (enzymology, genetics, pathology)
• Ichthyosis (enzymology, genetics, pathology)
• Male
• Membrane Proteins (genetics)
• Molecular Sequence Data
• Mutation (genetics)
• Pedigree
• Sequence Homology, Amino Acid
• Serine Endopeptidases (genetics)