Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene‐a case report from India. Issue 1 (1st December 2015)

• Record Type: Journal Article
• Authors: George, Renu; Santhanam, Sridhar; Samuel, Rekha; Chapla, Aaron; Hilmarsen, Hilde Tveitan; Braathen, Geir Julius; Reinholt, Finn P.; Jahnsen, Frode; Khnykin, Denis
• Is Part Of: Clinical case reports. Volume 4:Issue 1(2016)
• Page Start: 87
• Page End: 89
• Publication Date: 2015-12-01
• Subjects: FATP4 -- Indian patient -- novel sequence variant -- SLC27A4; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.462
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. The occurrence of IPS in an Indian patient suggests that it is more widespread than previously reported. Abstract : Ichthyosis prematurity syndrome is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. The occurrence of IPS in an Indian patient suggests that it is more widespread than previously reported.