| Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. | |
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MedLine Citation:
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PMID: 19631310 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Joakim Klar; Martina Schweiger; Robert Zimmerman; Rudolf Zechner; Hao Li; Hans Törmä; Anders Vahlquist; Bakar Bouadjar; Niklas Dahl; Judith Fischer |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-07-23 |
Journal Detail:
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Title: American journal of human genetics Volume: 85 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-08-14 Completed Date: 2009-09-23 Revised Date: 2010-09-27 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 248-53 Citation Subset: IM |
Affiliation:
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Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Biopsy Case-Control Studies Codon, Nonsense Coenzyme A Ligases / genetics, metabolism Consanguinity Epidermis / metabolism, ultrastructure Fatty Acid Transport Proteins / genetics*, metabolism Female Founder Effect Genes, Recessive Haplotypes Heterozygote Homozygote Humans Infant, Newborn Infant, Premature Lipid Metabolism / genetics Mutation* Pregnancy Skin Diseases, Genetic / genetics*, surgery, ultrastructure Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; 0/Fatty Acid Transport Proteins; 0/SLC27A4 protein, human; EC 6.2.1.-/Coenzyme A Ligases; EC 6.2.1.3/long-chain-fatty-acid-CoA ligase |
| Comments/Corrections | |
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