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

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...

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Autores principales: Iida, Aritoshi, Takeshita, Eri, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281661/
https://www.ncbi.nlm.nih.gov/pubmed/30534410
http://dx.doi.org/10.1038/s41439-018-0032-8
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author Iida, Aritoshi
Takeshita, Eri
Kosugi, Shunichi
Kamatani, Yoichiro
Momozawa, Yukihide
Kubo, Michiaki
Nakagawa, Eiji
Kurosawa, Kenji
Inoue, Ken
Goto, Yu-ichi
author_facet Iida, Aritoshi
Takeshita, Eri
Kosugi, Shunichi
Kamatani, Yoichiro
Momozawa, Yukihide
Kubo, Michiaki
Nakagawa, Eiji
Kurosawa, Kenji
Inoue, Ken
Goto, Yu-ichi
author_sort Iida, Aritoshi
collection PubMed
description 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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spelling pubmed-62816612018-12-10 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-12-05 /pmc/articles/PMC6281661/ /pubmed/30534410 http://dx.doi.org/10.1038/s41439-018-0032-8 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
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
title A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
title_full A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
title_fullStr A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
title_full_unstemmed A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
title_short A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
title_sort novel intragenic deletion in ophn1 in a japanese patient with dandy-walker malformation
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281661/
https://www.ncbi.nlm.nih.gov/pubmed/30534410
http://dx.doi.org/10.1038/s41439-018-0032-8
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