Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India

Renu George; Sridhar Santhanam; Rekha Samuel; Aaron Chapla; Hilde Tveitan Hilmarsen; Geir Julius Braathen; Finn P Reinholt; Frode Jahnsen; Denis Khnykin

doi:10.1002/ccr3.462

Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India

Clin Case Rep. 2015 Dec 1;4(1):87-9. doi: 10.1002/ccr3.462. eCollection 2016 Jan.

Authors

Renu George¹, Sridhar Santhanam², Rekha Samuel³, Aaron Chapla⁴, Hilde Tveitan Hilmarsen⁵, Geir Julius Braathen⁵, Finn P Reinholt⁶, Frode Jahnsen⁶, Denis Khnykin⁷

Affiliations

¹ Department of Dermatology Christian Medical College Vellore India.
² Department of Neonatology Christian Medical College Vellore India.
³ Centre for Stem Cell Research Christian Medical College Vellore India.
⁴ Department of Endocrinology Christian Medical College Vellore India.
⁵ Section of Medical Genetics Department of Laboratory Medicine Telemark Hospital Skien Norway.
⁶ Department of Pathology Oslo- University Hospital- Rikshospitalet Oslo Norway.
⁷ Department of Pathology Oslo- University Hospital- Rikshospitalet Oslo Norway; Department of Dermatology Oslo- University Hospital- Rikshospitalet Oslo Norway.

Abstract

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.

Keywords: FATP4; Indian patient; SLC27A4; novel sequence variant.

Publication types

Case Reports