Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
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.
Basel-Vanagaite
Lina
L
Department of Medical Genetics, Schneider Children's Medical Center of Israel. basel@post.tau.ac.il
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
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*
D008565:Membrane Proteins; D012697:Serine Endopeptidases; C485596:ST14 protein, human