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

doi:10.1038/s41439-018-0032-8

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

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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 language	English
Article number	1
Journal	Human Genome Variation
Volume	6
Issue number	1
DOIs	https://doi.org/10.1038/s41439-018-0032-8
Publication status	Published - 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, A., Takeshita, E., Kosugi, S., Kamatani, Y., Momozawa, Y., Kubo, M., ... 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

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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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.",

author = "Aritoshi Iida and Eri Takeshita and Shunichi Kosugi and Yoichiro Kamatani and Yukihide Momozawa and Michiaki Kubo and Eiji Nakagawa and Kenji Kurosawa and Ken Inoue and Goto, {Yu ichi}",

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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 journal › Article

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T1 - A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

AU - Iida, Aritoshi

AU - Takeshita, Eri

AU - Kosugi, Shunichi

AU - Kamatani, Yoichiro

AU - Momozawa, Yukihide

AU - Kubo, Michiaki

AU - Nakagawa, Eiji

AU - Kurosawa, Kenji

AU - Inoue, Ken

AU - Goto, Yu ichi

PY - 2019/12/1

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N2 - 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.

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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Iida A, Takeshita E, Kosugi S, Kamatani Y, Momozawa Y, Kubo M et al. A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. Human Genome Variation. 2019 Dec 1;6(1). 1. https://doi.org/10.1038/s41439-018-0032-8

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10.1038/s41439-018-0032-8