Novel USP9X variants in two patients with X-linked intellectual disability

USP9X variants have been reported in patients with X-linked intellectual disability. Here, we report two female patients with intellectual disability and pigment abnormalities along Blaschko lines. Targeted resequencing identified two novel heterozygous variants, c.4068_4072del (p. (Leu1357Tyrfs*12)...

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Autores principales: Tsurusaki, Yoshinori, Kuroda, Yukiko, Yamanouchi, Yasuko, Kondo, Eisuke, Ouchi, Kazunobu, Kimura, Yuichi, Enomoto, Yumi, Aida, Noriko, Masuno, Mitsuo, Kurosawa, Kenji
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/PMC6804943/
https://www.ncbi.nlm.nih.gov/pubmed/31666975
http://dx.doi.org/10.1038/s41439-019-0081-7
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author Tsurusaki, Yoshinori
Kuroda, Yukiko
Yamanouchi, Yasuko
Kondo, Eisuke
Ouchi, Kazunobu
Kimura, Yuichi
Enomoto, Yumi
Aida, Noriko
Masuno, Mitsuo
Kurosawa, Kenji
author_facet Tsurusaki, Yoshinori
Kuroda, Yukiko
Yamanouchi, Yasuko
Kondo, Eisuke
Ouchi, Kazunobu
Kimura, Yuichi
Enomoto, Yumi
Aida, Noriko
Masuno, Mitsuo
Kurosawa, Kenji
author_sort Tsurusaki, Yoshinori
collection PubMed
description USP9X variants have been reported in patients with X-linked intellectual disability. Here, we report two female patients with intellectual disability and pigment abnormalities along Blaschko lines. Targeted resequencing identified two novel heterozygous variants, c.4068_4072del (p. (Leu1357Tyrfs*12)) and c.1201C>T (p. (Arg401*)), in USP9X. Our findings provide further evidence that USP9X variants cause intellectual disability.
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spelling pubmed-68049432019-10-30 Novel USP9X variants in two patients with X-linked intellectual disability Tsurusaki, Yoshinori Kuroda, Yukiko Yamanouchi, Yasuko Kondo, Eisuke Ouchi, Kazunobu Kimura, Yuichi Enomoto, Yumi Aida, Noriko Masuno, Mitsuo Kurosawa, Kenji Hum Genome Var Data Report USP9X variants have been reported in patients with X-linked intellectual disability. Here, we report two female patients with intellectual disability and pigment abnormalities along Blaschko lines. Targeted resequencing identified two novel heterozygous variants, c.4068_4072del (p. (Leu1357Tyrfs*12)) and c.1201C>T (p. (Arg401*)), in USP9X. Our findings provide further evidence that USP9X variants cause intellectual disability. Nature Publishing Group UK 2019-10-21 /pmc/articles/PMC6804943/ /pubmed/31666975 http://dx.doi.org/10.1038/s41439-019-0081-7 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
Tsurusaki, Yoshinori
Kuroda, Yukiko
Yamanouchi, Yasuko
Kondo, Eisuke
Ouchi, Kazunobu
Kimura, Yuichi
Enomoto, Yumi
Aida, Noriko
Masuno, Mitsuo
Kurosawa, Kenji
Novel USP9X variants in two patients with X-linked intellectual disability
title Novel USP9X variants in two patients with X-linked intellectual disability
title_full Novel USP9X variants in two patients with X-linked intellectual disability
title_fullStr Novel USP9X variants in two patients with X-linked intellectual disability
title_full_unstemmed Novel USP9X variants in two patients with X-linked intellectual disability
title_short Novel USP9X variants in two patients with X-linked intellectual disability
title_sort novel usp9x variants in two patients with x-linked intellectual disability
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804943/
https://www.ncbi.nlm.nih.gov/pubmed/31666975
http://dx.doi.org/10.1038/s41439-019-0081-7
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