Document Detail

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
MedLine Citation:
PMID:  18445049     Owner:  NLM     Status:  MEDLINE    
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase. No other families have so far been described since the original report. In this current report we describe a female patient from a second family with ARIH syndrome who carries a homozygous novel mutation, p.M1I. The patient has congenital ichthyosis, light brown, curly, sparse hair, improving with age, and sparse body hair, eyebrows and eyelashes. She does not suffer from photophobia, but has blepharitis. The phenotype of this patient closely resembles that of the affected individuals in the previously reported family, although she does not have tooth abnormalities and the ichthyosis is milder.
L Avrahami; S Maas; M Pasmanik-Chor; L Rainshtein; N Magal; Jhs Smitt; J van Marle; M Shohat; L Basel-Vanagaite
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-04-28
Journal Detail:
Title:  Clinical genetics     Volume:  74     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-30     Completed Date:  2008-09-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  47-53     Citation Subset:  IM    
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
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MeSH Terms
Child, Preschool
Hypotrichosis / genetics*
Ichthyosis / genetics*
Serine Endopeptidases / genetics
Reg. No./Substance:
EC 3.4.21.-/Serine Endopeptidases; EC protein, human

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