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

Am J Hum Genet. 2007 Mar;80(3):467-77. doi: 10.1086/512487. Epub 2007 Jan 23.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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


  • Membrane Proteins
  • Serine Endopeptidases
  • ST14 protein, human

Associated data

  • GENBANK/AAG15395
  • GENBANK/AAH71077
  • GENBANK/AAH97271
  • GENBANK/BAB20376
  • GENBANK/BAE38987
  • RefSeq/NP_001035441
  • RefSeq/NP_068813
  • RefSeq/XP_417872
  • RefSeq/XP_508863
  • RefSeq/XP_546396