Nonsense variants of STAG2 result in distinct congenital anomalies

Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a...

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Autores principales: Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501222/
https://www.ncbi.nlm.nih.gov/pubmed/33014403
http://dx.doi.org/10.1038/s41439-020-00114-w
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author Aoi, Hiromi
Lei, Ming
Mizuguchi, Takeshi
Nishioka, Nobuko
Goto, Tomohide
Miyama, Sahoko
Suzuki, Toshifumi
Iwama, Kazuhiro
Uchiyama, Yuri
Mitsuhashi, Satomi
Itakura, Atsuo
Takeda, Satoru
Matsumoto, Naomichi
author_facet Aoi, Hiromi
Lei, Ming
Mizuguchi, Takeshi
Nishioka, Nobuko
Goto, Tomohide
Miyama, Sahoko
Suzuki, Toshifumi
Iwama, Kazuhiro
Uchiyama, Yuri
Mitsuhashi, Satomi
Itakura, Atsuo
Takeda, Satoru
Matsumoto, Naomichi
author_sort Aoi, Hiromi
collection PubMed
description Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases.
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spelling pubmed-75012222020-10-01 Nonsense variants of STAG2 result in distinct congenital anomalies Aoi, Hiromi Lei, Ming Mizuguchi, Takeshi Nishioka, Nobuko Goto, Tomohide Miyama, Sahoko Suzuki, Toshifumi Iwama, Kazuhiro Uchiyama, Yuri Mitsuhashi, Satomi Itakura, Atsuo Takeda, Satoru Matsumoto, Naomichi Hum Genome Var Data Report Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases. Nature Publishing Group UK 2020-09-18 /pmc/articles/PMC7501222/ /pubmed/33014403 http://dx.doi.org/10.1038/s41439-020-00114-w Text en © The Author(s) 2020 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
Aoi, Hiromi
Lei, Ming
Mizuguchi, Takeshi
Nishioka, Nobuko
Goto, Tomohide
Miyama, Sahoko
Suzuki, Toshifumi
Iwama, Kazuhiro
Uchiyama, Yuri
Mitsuhashi, Satomi
Itakura, Atsuo
Takeda, Satoru
Matsumoto, Naomichi
Nonsense variants of STAG2 result in distinct congenital anomalies
title Nonsense variants of STAG2 result in distinct congenital anomalies
title_full Nonsense variants of STAG2 result in distinct congenital anomalies
title_fullStr Nonsense variants of STAG2 result in distinct congenital anomalies
title_full_unstemmed Nonsense variants of STAG2 result in distinct congenital anomalies
title_short Nonsense variants of STAG2 result in distinct congenital anomalies
title_sort nonsense variants of stag2 result in distinct congenital anomalies
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501222/
https://www.ncbi.nlm.nih.gov/pubmed/33014403
http://dx.doi.org/10.1038/s41439-020-00114-w
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