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

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号15003
ジャーナルHuman Genome Variation
2
DOI
出版ステータスPublished - 12-02-2015

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

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