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

被引：28

作者：

Sobol M. ^{[1
,2
]}

Dahl N. ^{[1
]}

Klar J. ^{[1
]}

机构：

[1] Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala

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

来源：

BMC Research Notes | / 4卷 / 1期

关键词：

Missense Mutation; Nonsense Mutation; Premature Birth; Compound Heterozygous; Very Long Chain Fatty Acid;

D O I：

10.1186/1756-0500-4-90

中图分类号：

学科分类号：

摘要：

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. © 2011 Klar et al; licensee BioMed Central Ltd.

引用

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