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FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome
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 specif...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072334/ https://www.ncbi.nlm.nih.gov/pubmed/21450060 http://dx.doi.org/10.1186/1756-0500-4-90 |
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author | Sobol, Maria Dahl, Niklas Klar, Joakim |
author_facet | Sobol, Maria Dahl, Niklas Klar, Joakim |
author_sort | Sobol, Maria |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-3072334 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-30723342011-04-08 FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome Sobol, Maria Dahl, Niklas Klar, Joakim BMC Res Notes Research Article 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. BioMed Central 2011-03-30 /pmc/articles/PMC3072334/ /pubmed/21450060 http://dx.doi.org/10.1186/1756-0500-4-90 Text en Copyright ©2011 Klar et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Sobol, Maria Dahl, Niklas Klar, Joakim FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome |
title | FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome |
title_full | FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome |
title_fullStr | FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome |
title_full_unstemmed | FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome |
title_short | FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome |
title_sort | fatp4 missense and nonsense mutations cause similar features in ichthyosis prematurity syndrome |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072334/ https://www.ncbi.nlm.nih.gov/pubmed/21450060 http://dx.doi.org/10.1186/1756-0500-4-90 |
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