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Open Access Research article

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

Maria Sobol12, Niklas Dahl1 and Joakim Klar1*

Author Affiliations

1 Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala University, Uppsala, Sweden

2 Department of General and Molecular Genetics, National Taras Shevchenko University of Kyiv, Kyiv, Ukraine

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BMC Research Notes 2011, 4:90  doi:10.1186/1756-0500-4-90

Published: 30 March 2011

Abstract

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.