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European Journal of Dermatology

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A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family Volume 28, issue 2, March-April 2018

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Authors
1 Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, 45320, Pakistan
2 Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan
3 Department of Biotechnology, International Islamic University, Islamabad, Pakistan
4 Chandka Medical College, Larkana, Sindh 77150, Pakistan
5 Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
* Reprints
  • Key words: autosomal recessive ichthyosis with hypotrichosis syndrome, ST14 gene, novel missense variant
  • DOI : 10.1684/ejd.2017.3210
  • Page(s) : 209-16
  • Published in: 2018

Background

Autosomal recessive ichthyosis with hypotrichosis (ARIH; MIM 602400) syndrome is characterized by diffused congenital ichthyosis and generalized non-scarring hypotrichosis. The underlying genetic cause of ARIH syndrome has been associated with sequence variants of the gene ST14, encoding type II transmembrane serine protease matriptase, which maps to chromosome 11q24.3.