Open AccessIchthyosis prematurity syndrome caused by a novel missense mutation in FATP 4 gene‐a case report from India
Author(s) -
George Renu,
Santhanam Sridhar,
Samuel Rekha,
Chapla Aaron,
Hilmarsen Hilde Tveitan,
Braathen Geir Julius,
Reinholt Finn P.,
Jahnsen Frode,
Khnykin Denis
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.462
Subject(s) - missense mutation , medicine , nonsense mutation , nonsense , congenital ichthyosis , ichthyosis , mutation , genetics , gene , dermatology , biology
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.