Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 Is associated with impaired profilaggrin processing

Alef, T., Torres, S., Hausser, I., Metze, D., Tursen, U., Lestringant, G.G. and Hennies, Hans C. (2009) Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 Is associated with impaired profilaggrin processing. Journal of Investigative Dermatology, 129 (4). pp. 862-869. ISSN 0022-202X

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Abstract

Congenital ichthyosis encompasses a heterogeneous group of disorders of cornification. Isolated forms and syndromic ichthyosis can be differentiated. We have analyzed two consanguineous families from the United Arab Emirates and Turkey with an autosomal recessive syndrome of diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, marked hypohidrosis, and woolly hair (OMIM 602400). By genome-wide analysis, we found a homozygous interval on chromosome 11q24–q25 and obtained a LOD score of 4.0 at D11S910. We identified a homozygous splice-site mutation in the Arab patients and a frame-shift deletion in the Turkish patient in the gene suppression of tumorigenicity-14 (ST14). The product of ST14, matriptase, is a type II transmembrane serine protease synthesized in most human epithelia. Two missense mutations in ST14 were recently described in patients with a phenotype of ichthyosis and hypotrichosis, indicating diverse activities of matriptase in the epidermis and hair follicles. Here we have further demonstrated the loss of matriptase in differentiated patient keratinocytes, reduced proteolytic activation of prostasin, and disturbed processing of profilaggrin. As filaggrin monomers play a pivotal role in epidermal barrier formation, these findings reveal the link between congenital disorders of keratinization and filaggrin processing in the human skin.

Item Type:	Article
Additional Information:	Unmapped bibliographic data: ST - Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 Is associated with impaired profilaggrin processing [Field not mapped to EPrints] LB - 1 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords:	Ichthyosis
Subjects:	Q Science > QH Natural history > QH301 Biology Q Science > QH Natural history > QH426 Genetics
Schools:	School of Applied Sciences
Related URLs:	Author
Depositing User:	Hans Hennies
Date Deposited:	29 Jul 2016 08:36
Last Modified:	29 Jul 2016 15:10
URI:	http://eprints.hud.ac.uk/id/eprint/28798

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