The ATRX splicing variant c.21-1G>A is asymptomatic

The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is localized at the splicing acceptor site of intron 1. Th...

Descripción completa

Detalles Bibliográficos
Autores principales: Kojima, Karin, Wada, Takahito, Shimbo, Hiroko, Ikeda, Takahiro, Jimbo, Eriko F., Saitsu, Hirotomo, Matsumoto, Naomichi, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474544/
https://www.ncbi.nlm.nih.gov/pubmed/36104326
http://dx.doi.org/10.1038/s41439-022-00212-x
_version_ 1784789742839136256
author Kojima, Karin
Wada, Takahito
Shimbo, Hiroko
Ikeda, Takahiro
Jimbo, Eriko F.
Saitsu, Hirotomo
Matsumoto, Naomichi
Yamagata, Takanori
author_facet Kojima, Karin
Wada, Takahito
Shimbo, Hiroko
Ikeda, Takahiro
Jimbo, Eriko F.
Saitsu, Hirotomo
Matsumoto, Naomichi
Yamagata, Takanori
author_sort Kojima, Karin
collection PubMed
description The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is localized at the splicing acceptor site of intron 1. This splicing event, NM_000489.6: c.21_133del p.S7Rfs*1, induces exon 2 deletion and early termination. The start codon in exon 3 of ATRX is presumed to produce a slightly shorter but functional ATRX protein.
format Online
Article
Text
id pubmed-9474544
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-94745442022-09-16 The ATRX splicing variant c.21-1G>A is asymptomatic Kojima, Karin Wada, Takahito Shimbo, Hiroko Ikeda, Takahiro Jimbo, Eriko F. Saitsu, Hirotomo Matsumoto, Naomichi Yamagata, Takanori Hum Genome Var Data Report The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is localized at the splicing acceptor site of intron 1. This splicing event, NM_000489.6: c.21_133del p.S7Rfs*1, induces exon 2 deletion and early termination. The start codon in exon 3 of ATRX is presumed to produce a slightly shorter but functional ATRX protein. Nature Publishing Group UK 2022-09-14 /pmc/articles/PMC9474544/ /pubmed/36104326 http://dx.doi.org/10.1038/s41439-022-00212-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Kojima, Karin
Wada, Takahito
Shimbo, Hiroko
Ikeda, Takahiro
Jimbo, Eriko F.
Saitsu, Hirotomo
Matsumoto, Naomichi
Yamagata, Takanori
The ATRX splicing variant c.21-1G>A is asymptomatic
title The ATRX splicing variant c.21-1G>A is asymptomatic
title_full The ATRX splicing variant c.21-1G>A is asymptomatic
title_fullStr The ATRX splicing variant c.21-1G>A is asymptomatic
title_full_unstemmed The ATRX splicing variant c.21-1G>A is asymptomatic
title_short The ATRX splicing variant c.21-1G>A is asymptomatic
title_sort atrx splicing variant c.21-1g>a is asymptomatic
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474544/
https://www.ncbi.nlm.nih.gov/pubmed/36104326
http://dx.doi.org/10.1038/s41439-022-00212-x
work_keys_str_mv AT kojimakarin theatrxsplicingvariantc211gaisasymptomatic
AT wadatakahito theatrxsplicingvariantc211gaisasymptomatic
AT shimbohiroko theatrxsplicingvariantc211gaisasymptomatic
AT ikedatakahiro theatrxsplicingvariantc211gaisasymptomatic
AT jimboerikof theatrxsplicingvariantc211gaisasymptomatic
AT saitsuhirotomo theatrxsplicingvariantc211gaisasymptomatic
AT matsumotonaomichi theatrxsplicingvariantc211gaisasymptomatic
AT yamagatatakanori theatrxsplicingvariantc211gaisasymptomatic
AT kojimakarin atrxsplicingvariantc211gaisasymptomatic
AT wadatakahito atrxsplicingvariantc211gaisasymptomatic
AT shimbohiroko atrxsplicingvariantc211gaisasymptomatic
AT ikedatakahiro atrxsplicingvariantc211gaisasymptomatic
AT jimboerikof atrxsplicingvariantc211gaisasymptomatic
AT saitsuhirotomo atrxsplicingvariantc211gaisasymptomatic
AT matsumotonaomichi atrxsplicingvariantc211gaisasymptomatic
AT yamagatatakanori atrxsplicingvariantc211gaisasymptomatic

Ejemplares similares