Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

April 2008 in “ Clinical Genetics ”

Limor Avrahami, Saskia M. Maas, Metsada Pasmanik‐Chor, Limor Rainshtein, Nurit Magal, JHS Smitt, Jan van Marle, M Shohat, Lina Basel‐Vanagaite

TLDR A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome was further delineated in a study involving a female patient from a second family, who carried a novel homozygous mutation, p.M1I, in the ST14 gene. This gene encodes the serine protease matriptase. The patient exhibited congenital ichthyosis, light brown, curly, sparse hair that improved with age, and sparse body hair, eyebrows, and eyelashes. Unlike previous cases, she did not experience photophobia but had blepharitis, and her ichthyosis was milder without tooth abnormalities. This study expanded the understanding of ARIH syndrome by identifying a new mutation and comparing phenotypic variations.

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Research cited in this study

3 / 3 results

research Autosomal Ichthyosis With Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice

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research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis

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A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.