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FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.ORCID iD: 0000-0003-4185-7409
2011 (English)In: BMC Research Notes, ISSN 1756-0500, E-ISSN 1756-0500, Vol. 4, 90- p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2011. Vol. 4, 90- p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-175464DOI: 10.1186/1756-0500-4-90PubMedID: 21450060OAI: oai:DiVA.org:uu-175464DiVA: diva2:531600
Available from: 2012-06-07 Created: 2012-06-07 Last updated: 2017-12-07Bibliographically approved

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Klar, Joakim

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