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BMC Research Notes

, 4:90

First Online: 30 March 2011Received: 14 February 2011Accepted: 30 March 2011DOI: 10.1186-1756-0500-4-90

Cite this article as: Sobol, M., Dahl, N. & Klar, J. BMC Res Notes 2011 4: 90. doi:10.1186-1756-0500-4-90

Abstract

BackgroundIchthyosis 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.

FindingsWe 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.

ConclusionsMissense 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.

Electronic supplementary materialThe online version of this article doi:10.1186-1756-0500-4-90 contains supplementary material, which is available to authorized users.

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Autor: Maria Sobol - Niklas Dahl - Joakim Klar

Fuente: https://link.springer.com/







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