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: Clare Kiely, Deirdre Devaney, Judith Fischer, Patricia Lenane, Alan D Irvine
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 31 Issue 4 Pg. 517-8 ( 2014) ISSN: 1525-1470 [Electronic] United States
• PMID: 24889544 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• Fatty Acid Transport Proteins

Topics

• Aniridia (genetics)
• Fatty Acid Transport Proteins (genetics)
• Female
• Humans
• Ichthyosis (genetics)
• Infant, Newborn
• Infant, Premature, Diseases (genetics)
• Kidney (abnormalities)
• Male
• Mutation
• Psychomotor Disorders (genetics)
• Skin (pathology)