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.

journal_name

Am J Hum Genet

authors

Klar J,Schweiger M,Zimmerman R,Zechner R,Li H,Törmä H,Vahlquist A,Bouadjar B,Dahl N,Fischer J

doi

10.1016/j.ajhg.2009.06.021

subject

Has Abstract

pub_date

2009-08-01 00:00:00

pages

248-53

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(09)00282-1

journal_volume

85

pub_type

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