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

研究推進本部

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

6 被引用数 (Scopus)

抄録

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.

本文言語	英語
論文番号	1
ジャーナル	Human Genome Variation
巻	6
号	1
DOI	https://doi.org/10.1038/s41439-018-0032-8
出版ステータス	出版済み - 01-12-2019

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

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10.1038/s41439-018-0032-8

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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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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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UR - https://www.scopus.com/pages/publications/85069294910#tab=citedBy

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DO - 10.1038/s41439-018-0032-8

M3 - Article

AN - SCOPUS:85069294910

SN - 2054-345X

VL - 6

JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

M1 - 1

ER -

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

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