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Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.ORCID iD: 0000-0003-4185-7409
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2009 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 85, no 2, 248-253 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2009. Vol. 85, no 2, 248-253 p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-119460DOI: 10.1016/j.ajhg.2009.06.021ISI: 000269332900013PubMedID: 19631310OAI: oai:DiVA.org:uu-119460DiVA: diva2:300273
Available from: 2010-02-25 Created: 2010-02-25 Last updated: 2016-02-29Bibliographically approved

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Klar, JoakimTörmä, Hans
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