title: 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.affiliation: Department of Medical Genetics, Schneider Children's Medical Center of Israel. basel@post.tau.ac.il
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.forename: Revital
authors.initials: R
authors.lastname: Attia
authors.forename: Akemi
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: Limor
authors.initials: L
authors.lastname: Rainshtein
authors.forename: Dan
authors.initials: D
authors.lastname: Ben Amitai
authors.forename: Raziel
authors.initials: R
authors.lastname: Lurie
authors.forename: Metsada
authors.initials: M
authors.lastname: Pasmanik-Chor
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Alex
authors.initials: A
authors.lastname: Zvulunov
authors.forename: Shirley
authors.initials: S
authors.lastname: Saban
authors.forename: Nurit
authors.initials: N
authors.lastname: Magal
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
authors.forename: Mordechai
authors.initials: M
authors.lastname: Shohat
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D012697:Serine Endopeptidases; C485596:ST14 protein, human