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

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Dandy-Walker Syndrome
Exons
Fourth Ventricle
Intellectual Disability
Dilatation

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Genetics
  • Molecular Biology

Cite this

Iida, Aritoshi ; Takeshita, Eri ; Kosugi, Shunichi ; Kamatani, Yoichiro ; Momozawa, Yukihide ; Kubo, Michiaki ; Nakagawa, Eiji ; Kurosawa, Kenji ; Inoue, Ken ; Goto, Yu ichi. / A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. In: Human Genome Variation. 2019 ; Vol. 6, No. 1.
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Iida, A, Takeshita, E, Kosugi, S, Kamatani, Y, Momozawa, Y, Kubo, M, Nakagawa, E, Kurosawa, K, Inoue, K & Goto, YI 2019, 'A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation', Human Genome Variation, vol. 6, no. 1, 1. https://doi.org/10.1038/s41439-018-0032-8

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. / Iida, Aritoshi; Takeshita, Eri; Kosugi, Shunichi; Kamatani, Yoichiro; Momozawa, Yukihide; Kubo, Michiaki; Nakagawa, Eiji; Kurosawa, Kenji; Inoue, Ken; Goto, Yu ichi.

In: Human Genome Variation, Vol. 6, No. 1, 1, 01.12.2019.

Research output: Contribution to journalArticle

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AU - Iida, Aritoshi

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AU - Momozawa, Yukihide

AU - Kubo, Michiaki

AU - Nakagawa, Eiji

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AU - Goto, Yu ichi

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AB - 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.

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