title: Ichthyosis prematurity syndrome: a case report and review of known mutations.
abstract: 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.
authors.affiliation: Department of Paediatric Dermatology, Children's University Hospital, Dublin, Ireland.
authors.forename: Clare
authors.initials: C
authors.lastname: Kiely
authors.forename: Deirdre
authors.initials: D
authors.lastname: Devaney
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
authors.forename: Patricia
authors.initials: P
authors.lastname: Lenane
authors.forename: Alan D
authors.initials: AD
authors.lastname: Irvine
mesh_terms: D015783:Aniridia / Q000235:genetics*; D050612:Fatty Acid Transport Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D011596:Psychomotor Disorders / Q000235:genetics*; D012867:Skin / Q000473:pathology*
chemical_list: D050612:Fatty Acid Transport Proteins