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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Article number1
JournalHuman Genome Variation
Volume6
Issue number1
DOIs
Publication statusPublished - 01-12-2019

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

Fingerprint Dive into the research topics of 'A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation'. Together they form a unique fingerprint.

  • Cite this

    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