Unknown

Dataset Information

0

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.

SUBMITTER: Basel-Vanagaite L 

PROVIDER: S-EPMC1821100 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Basel-Vanagaite Lina L   Attia Revital R   Ishida-Yamamoto Akemi A   Rainshtein Limor L   Ben Amitai Dan D   Lurie Raziel R   Pasmanik-Chor Metsada M   Indelman Margarita M   Zvulunov Alex A   Saban Shirley S   Magal Nurit N   Sprecher Eli E   Shohat Mordechai M  

American journal of human genetics 20070123 3

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 erupt  ...[more]

Similar Datasets

Unknown A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
| S-EPMC8240033 | biostudies-literature
Unknown Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
| S-EPMC6218848 | biostudies-literature
Unknown Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants.
| S-EPMC7364366 | biostudies-literature
Unknown Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
| S-EPMC3059417 | biostudies-literature
Unknown Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
| S-EPMC1377076 | biostudies-other
Unknown Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
| S-EPMC2914544 | biostudies-literature
Unknown A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
| S-EPMC5717823 | biostudies-literature
Unknown Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
| S-EPMC5473727 | biostudies-other
Unknown A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
| S-EPMC3071911 | biostudies-literature
Unknown Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
| S-EPMC3675029 | biostudies-literature