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

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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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.",

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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

Y1 - 2019/12/1

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

Abstract

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