Ichthyosis Prematurity Syndrome Caused by a Novel Missense Mutation in FATP4 Gene-a Case Report from India

Overview

Journal Clin Case Rep

Date 2016 Jan 20

PMID 26783444

Citations 6

Authors

Renu George

Sridhar Santhanam

Rekha Samuel

Aaron Chapla

Hilde Tveitan Hilmarsen

Geir Julius Braathen

Finn P Reinholt

Frode Jahnsen

Denis Khnykin

Affiliations

Soon will be listed here.

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.

Citing Articles

First documented case of ichthyosis prematurity syndrome in Iraq: A case report with literature review.

Al-Obaidi A, Al-Obiade R, Al-Badri S, Al-Fatlawi N, Al-Obaidi M, Hashim H Radiol Case Rep. 2024; 19(12):5770-5774.

PMID: 39308606 PMC: 11416458. DOI: 10.1016/j.radcr.2024.08.076.

Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis.

Koutsoukos S, Bilousova G Dermatol Ther (Heidelb). 2024; 14(9):2379-2392.

PMID: 39112824 PMC: 11393223. DOI: 10.1007/s13555-024-01239-4.

Role of fatty acid transport protein 4 in metabolic tissues: insights into obesity and fatty liver disease.

Li H, Herrmann T, Seessle J, Liebisch G, Merle U, Stremmel W Biosci Rep. 2022; 42(6).

PMID: 35583196 PMC: 9160530. DOI: 10.1042/BSR20211854.

Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.

Zwara A, Wertheim-Tysarowska K, Mika A Front Med (Lausanne). 2021; 8:730855.

PMID: 34497816 PMC: 8420999. DOI: 10.3389/fmed.2021.730855.

Experience of low-dose dexamethasone use in the respiratory management of ichthyosis prematurity syndrome.

Henderson D, Murphy C, ODea M, Boyle M BMJ Case Rep. 2021; 14(8).

PMID: 34417235 PMC: 8381299. DOI: 10.1136/bcr-2021-243348.

References

George R, Santhanam S, Samuel R, Chapla A, Hilmarsen H, Braathen G . Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India. Clin Case Rep. 2016; 4(1):87-9. PMC: 4706401. DOI: 10.1002/ccr3.462. View

Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Torma H . Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet. 2009; 85(2):248-53. PMC: 2725242. DOI: 10.1016/j.ajhg.2009.06.021. View

Kiely C, Devaney D, Fischer J, Lenane P, Irvine A . Ichthyosis prematurity syndrome: a case report and review of known mutations. Pediatr Dermatol. 2014; 31(4):517-8. DOI: 10.1111/pde.12320. View

Inhoff O, Hausser I, Schneider S, Khnykin D, Jahnsen F, Sartoris J . Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant. Arch Dermatol. 2011; 147(6):750-2. DOI: 10.1001/archdermatol.2011.139. View

Sobol M, Dahl N, Klar J . FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome. BMC Res Notes. 2011; 4:90. PMC: 3072334. DOI: 10.1186/1756-0500-4-90. View