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.
authors.affiliation: Department of Pediatrics, Fujita Health University , Aichi, Japan.
authors.forename: Ikuya
authors.initials: I
authors.lastname: Tsuge
authors.affiliation: Department of Pediatrics, Tosei General Hospital , Aichi, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Morishita
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Aichi, Japan.
authors.forename: Takema
authors.initials: T
authors.lastname: Kato
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University , Aichi, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Tsutsumi
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Aichi, Japan.
authors.forename: Hidehito
authors.initials: H
authors.lastname: Inagaki
authors.affiliation: Department of Pediatrics, Fujita Health University , Aichi, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Mori
authors.affiliation: Department of Pediatrics, Fujita Health University , Aichi, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Yamawaki
authors.affiliation: Department of Pediatrics, Fujita Health University , Aichi, Japan.
authors.forename: Chisato
authors.initials: C
authors.lastname: Inuo
authors.affiliation: Department of Pediatrics, Tosei General Hospital , Aichi, Japan.
authors.forename: Kuniko
authors.initials: K
authors.lastname: Ieda
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University , Aichi, Japan.
authors.forename: Tamae
authors.initials: T
authors.lastname: Ohye
authors.affiliation: Department of Dermatology, Tosei General Hospital , Aichi, Japan.
authors.forename: Akinori
authors.initials: A
authors.lastname: Hayakawa
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Aichi, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi