Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
Am J Hum Genet
; 85(2): 248-53, 2009 Aug.
Article
em En
| MEDLINE
| ID: mdl-19631310
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias Genéticas
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Proteínas de Transporte de Ácido Graxo
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Mutação
Tipo de estudo:
Observational_studies
Limite:
Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article