Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.

Published on Jan 1, 2017in Journal of The European Academy of Dermatology and Venereology5.248
· DOI :10.1111/JDV.13584
Elena Bueno6
Estimated H-index: 6
(University of Salamanca),
Javier Cañueto15
Estimated H-index: 15
(University of Salamanca)
+ 4 AuthorsRogelio González-Sarmiento35
Estimated H-index: 35
(University of Salamanca)
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Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.
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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.
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Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibroblasts derived from a patient with IPS show reduced activity of very long-chain fatty acids (VLCFA)-CoA synthetase and a specific reduction in the incorporation of VLCFA into cellu...
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Resume Introduction Le « syndrome ichtyose-prematurite » est tres rare ; il appartient au groupe des ichtyoses syndromiques. Il est du a des mutations du gene FATP4 , lequel joue un role cle dans le transport et l’activation des acides gras de l’epiderme et dans la fonction barriere cutanee. Malgre une presentation clinique stereotypee en periode neonatale, l’affection est peu connue des cliniciens. Nous en rapportons deux nouveaux cas. Observations Cas n o 1 : il s’agissait d’un enfant de sexe ...