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

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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 languageEnglish
Article number15003
JournalHuman Genome Variation
Volume2
DOIs
Publication statusPublished - 12-02-2015

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All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

Cite this

Tsuge, I., Morishita, M., Kato, T., Tsutsumi, M., Inagaki, H., Mori, Y., Yamawaki, K., Inuo, C., Ieda, K., Ohye, T., Hayakawa, A., & Kurahashi, H. (2015). Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome. Human Genome Variation, 2, [15003]. https://doi.org/10.1038/hgv.2015.3