Document Detail

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
MedLine Citation:
PMID:  19631310     Owner:  NLM     Status:  MEDLINE    
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.
Joakim Klar; Martina Schweiger; Robert Zimmerman; Rudolf Zechner; Hao Li; Hans Törmä; Anders Vahlquist; Bakar Bouadjar; Niklas Dahl; Judith Fischer
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-07-23
Journal Detail:
Title:  American journal of human genetics     Volume:  85     ISSN:  1537-6605     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-08-14     Completed Date:  2009-09-23     Revised Date:  2013-06-02    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  248-53     Citation Subset:  IM    
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
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MeSH Terms
Case-Control Studies
Codon, Nonsense
Coenzyme A Ligases / genetics,  metabolism
Epidermis / metabolism,  ultrastructure
Fatty Acid Transport Proteins / genetics*,  metabolism
Founder Effect
Genes, Recessive
Infant, Newborn
Infant, Premature
Lipid Metabolism / genetics
Skin Diseases, Genetic / genetics*,  surgery,  ultrastructure
Reg. No./Substance:
0/Codon, Nonsense; 0/Fatty Acid Transport Proteins; 0/SLC27A4 protein, human; EC 6.2.1.-/Coenzyme A Ligases; EC ligase

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