Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

Ikuya Tsuge; Masashi Morishita; Takema Kato; Makiko Tsutsumi; Hidehito Inagaki; Yuji Mori; Kazuo Yamawaki; Chisato Inuo; Kuniko Ieda; Tamae Ohye; Akinori Hayakawa; Hiroki Kurahashi

doi:10.1038/hgv.2015.3

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

Hum Genome Var. 2015 Feb 12:2:15003. doi: 10.1038/hgv.2015.3. eCollection 2015.

Authors

Affiliations

¹ Department of Pediatrics, Fujita Health University , Aichi, Japan.
² Department of Pediatrics, Tosei General Hospital , Aichi, Japan.
³ Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Aichi, Japan.
⁴ Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University , Aichi, Japan.
⁵ Department of Dermatology, Tosei General Hospital , Aichi, Japan.

Abstract

Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive disorder characterized by prematurity, a thick caseous scale at birth and lifelong atopic diathesis. Here, we describe the first Japanese case of IPS and report novel compound heterozygous mutations (p.C403Y and p.R510H) in fatty acid transport protein 4 (FATP4). She is the first reported patient of Asian origin, entirely distinct from the Scandinavian population, in whom the heterozygote carrier frequency is very high.