A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, Yoichiro Kamatani, Yukihide Momozawa, Michiaki Kubo, Eiji Nakagawa, Kenji Kurosawa, Ken Inoue, Yu ichi Goto

研究成果: Article

抜粋

Dandy-Walker malformation (DWM) is a rare congenital malformation defined by hypoplasia of the cerebellar vermis and cystic dilatation of the fourth ventricle. Oligophrenin-1 is mutated in X-linked intellectual disability with or without cerebellar hypoplasia. Here, we report a Japanese DWM patient carrying a novel intragenic 13.5-kb deletion in OPHN1 ranging from exon 11–15. This is the first report of an OPHN1 deletion in a Japanese patient with DWM.

元の言語English
記事番号1
ジャーナルHuman Genome Variation
6
発行部数1
DOI
出版物ステータスPublished - 01-12-2019

    フィンガープリント

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

これを引用

Iida, A., Takeshita, E., Kosugi, S., Kamatani, Y., Momozawa, Y., Kubo, M., Nakagawa, E., Kurosawa, K., Inoue, K., & Goto, Y. I. (2019). A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. Human Genome Variation, 6(1), [1]. https://doi.org/10.1038/s41439-018-0032-8