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

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

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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.

Original language	English
Article number	15003
Journal	Human Genome Variation
Volume	2
DOIs	https://doi.org/10.1038/hgv.2015.3
Publication status	Published - 12-02-2015

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

Access to Document

10.1038/hgv.2015.3

Cite this

@article{c76d51cca13041079ca09b37201d9d89,

title = "Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome",

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.",

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

year = "2015",

month = feb,

day = "12",

doi = "10.1038/hgv.2015.3",

language = "English",

volume = "2",

journal = "Human Genome Variation",

issn = "2054-345X",

publisher = "Springer Nature",

}

TY - JOUR

T1 - Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

AU - Tsuge, Ikuya

AU - Morishita, Masashi

AU - Kato, Takema

AU - Tsutsumi, Makiko

AU - Inagaki, Hidehito

AU - Mori, Yuji

AU - Yamawaki, Kazuo

AU - Inuo, Chisato

AU - Ieda, Kuniko

AU - Ohye, Tamae

AU - Hayakawa, Akinori

AU - Kurahashi, Hiroki

PY - 2015/2/12

Y1 - 2015/2/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84999002739&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84999002739&partnerID=8YFLogxK

U2 - 10.1038/hgv.2015.3

DO - 10.1038/hgv.2015.3

M3 - Article

AN - SCOPUS:84999002739

SN - 2054-345X

VL - 2

JO - Human Genome Variation

JF - Human Genome Variation

M1 - 15003

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this