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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing
Journal of Investigative Dermatology, Volume 129, No. 4, Year 2009
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Description
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. © 2009 The Society for Investigative Dermatology.
Authors & Co-Authors
Alef, Thomas
Germany, Koln
Medizinische Fakultät
Germany, Koln
Universität zu Köln
Torres, Serena
Germany, Koln
Medizinische Fakultät
Hausser, Ingrid
Germany, Heidelberg
Universität Heidelberg
Metze, Dieter
Germany, Munster
University of Münster
Tur̈sen, Ümit
Turkey, Mersin
Mersin Üniversitesi
Lestringant, Gilles G.
United Arab Emirates, Al Ain
Tawam Hospital
Hennies, Hans C.
Germany, Koln
Medizinische Fakultät
Germany, Koln
Universität zu Köln
Statistics
Citations: 89
Authors: 7
Affiliations: 6
Identifiers
Doi:
10.1038/jid.2008.311
ISSN:
0022202X
e-ISSN:
15231747
Research Areas
Cancer
Genetics And Genomics
Health System And Policy