Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations. Issue 4 (29th May 2014)

• Record Type: Journal Article
• Authors: Kiely, Clare; Devaney, Deirdre; Fischer, Judith; Lenane, Patricia; Irvine, Alan D.
• Is Part Of: Pediatric dermatology. Volume 31:Issue 4(2014)
• Page Start: 517
• Page End: 518
• Publication Date: 2014-05-29
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12320
• Languages: English
• ISSNs: 0736-8046

Abstract

<abstract abstract-type="main" id="pde12320-abs-0001"> <title>Abstract</title> <p>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&gt;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.</p> </abstract>