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Background  Ichthyosis Prematurity Syndrome (IPS) is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4) and a specific reduction in the incorporation of very long chain fatty acids (VLCFA) into cellular lipids.    Findings  We screened probands from five families segregating IPS for mutations in the  FATP4  gene. Four probands were compound heterozygous for four different mutations of which three are novel. Four patients were heterozygous and one patient homozygous for the previously reported non-sense mutation p.C168X (c.504c > a). All patients had clinical characteristics of IPS and a similar clinical course.    Conclusions  Missense mutations and non-sense mutations in  FATP4  are associated with similar clinical features suggesting that missense mutations have a severe impact on FATP4 function. The results broaden the mutational spectrum in  FATP4  associated with IPS for molecular diagnosis of and further functional analysis of FATP4.

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome