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Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

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.

SUBMITTER: Klar J 

PROVIDER: S-EPMC2725242 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature

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Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Klar Joakim J   Schweiger Martina M   Zimmerman Robert R   Zechner Rudolf R   Li Hao H   Törmä Hans H   Vahlquist Anders A   Bouadjar Bakar B   Dahl Niklas N   Fischer Judith J  

American journal of human genetics 20090723 2

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 cellu  ...[more]

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