Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic varia...

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Autores principales: Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804785/
https://www.ncbi.nlm.nih.gov/pubmed/31645986
http://dx.doi.org/10.1038/s41439-019-0078-2
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author Takeshita, Eri
Iida, Aritoshi
Abe-Hatano, Chihiro
Nakagawa, Eiji
Sasaki, Masayuki
Inoue, Ken
Goto, Yu-ichi
author_facet Takeshita, Eri
Iida, Aritoshi
Abe-Hatano, Chihiro
Nakagawa, Eiji
Sasaki, Masayuki
Inoue, Ken
Goto, Yu-ichi
author_sort Takeshita, Eri
collection PubMed
description Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2. The pathogenic variants presented here should be a useful resource for examining the correlation between the genotypes and phenotypes of RTT.
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spelling pubmed-68047852019-10-23 Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome Takeshita, Eri Iida, Aritoshi Abe-Hatano, Chihiro Nakagawa, Eiji Sasaki, Masayuki Inoue, Ken Goto, Yu-ichi Hum Genome Var Data Report Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2. The pathogenic variants presented here should be a useful resource for examining the correlation between the genotypes and phenotypes of RTT. Nature Publishing Group UK 2019-10-18 /pmc/articles/PMC6804785/ /pubmed/31645986 http://dx.doi.org/10.1038/s41439-019-0078-2 Text en © The Author(s) 2019 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
Takeshita, Eri
Iida, Aritoshi
Abe-Hatano, Chihiro
Nakagawa, Eiji
Sasaki, Masayuki
Inoue, Ken
Goto, Yu-ichi
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
title Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
title_full Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
title_fullStr Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
title_full_unstemmed Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
title_short Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
title_sort ten novel insertion/deletion variants in mecp2 identified in japanese patients with rett syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804785/
https://www.ncbi.nlm.nih.gov/pubmed/31645986
http://dx.doi.org/10.1038/s41439-019-0078-2
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