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Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations
Author(s) -
Kiely Clare,
Devaney Deirdre,
Fischer Judith,
Lenane Patricia,
Irvine Alan D.
Publication year - 2014
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12320
Subject(s) - congenital ichthyosis , ichthyosis , medicine , mutation , mendelian inheritance , genetics , population , dyskeratosis , omim : online mendelian inheritance in man , autosomal recessive inheritance , dermatology , pediatrics , hyperkeratosis , biology , gene , phenotype , environmental health
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.