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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome
American Journal of Human Genetics, Volume 85, No. 2, Year 2009
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Description
Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibroblasts derived from a patient with IPS show reduced activity of very long-chain fatty acids (VLCFA)-CoA synthetase and a specific reduction in the incorporation of VLCFA into cellular lipids. The human phenotype is consistent with Fatp4 deficiency in mice that is characterized by a severe skin phenotype, a defective permeability barrier function, and perturbed VLCFA metabolism. Our results further emphasize the importance of fatty acid metabolism for normal epidermal barrier function illustrated by deficiency of a member in the FATP family of proteins. © 2009 The American Society of Human Genetics.
Authors & Co-Authors
Klar, Joakim
Sweden, Uppsala
Uppsala Universitet
Schweiger, Martina
Austria, Graz
Universität Graz
Zimmerman, Robert
Austria, Graz
Universität Graz
Zechner, Rudolf
Austria, Graz
Universität Graz
Li, Hao
Sweden, Uppsala
Akademiska Sjukhuset
Törmä, Hans
Sweden, Uppsala
Akademiska Sjukhuset
Vahlquist, Anders
Sweden, Uppsala
Akademiska Sjukhuset
Bouadjar, Bakar
Algeria, Algiers
Centre Hospitalo-universitaire Mohamed Lamine Debaghine
Dahl, Niklas
Sweden, Uppsala
Uppsala Universitet
Fischer, Judith
France, Gif-sur-yvette
Commissariat a L'energie Atomique et Aux Energies Alternatives
Statistics
Citations: 10
Authors: 10
Affiliations: 5
Identifiers
Doi:
10.1016/j.ajhg.2009.06.021
ISSN:
00029297
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health