X-linked intellectual disability related to a novel variant of KLHL15

Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, freque...

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Autores principales: Kido, Jun, Egami, Kimiyasu, Misumi, Yohei, Sugawara, Keishin, Tsuchida, Naomi, Matsumoto, Naomichi, Ueda, Mitsuharu, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349042/
https://www.ncbi.nlm.nih.gov/pubmed/37452054
http://dx.doi.org/10.1038/s41439-023-00248-7
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author Kido, Jun
Egami, Kimiyasu
Misumi, Yohei
Sugawara, Keishin
Tsuchida, Naomi
Matsumoto, Naomichi
Ueda, Mitsuharu
Nakamura, Kimitoshi
author_facet Kido, Jun
Egami, Kimiyasu
Misumi, Yohei
Sugawara, Keishin
Tsuchida, Naomi
Matsumoto, Naomichi
Ueda, Mitsuharu
Nakamura, Kimitoshi
author_sort Kido, Jun
collection PubMed
description Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.
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spelling pubmed-103490422023-07-16 X-linked intellectual disability related to a novel variant of KLHL15 Kido, Jun Egami, Kimiyasu Misumi, Yohei Sugawara, Keishin Tsuchida, Naomi Matsumoto, Naomichi Ueda, Mitsuharu Nakamura, Kimitoshi Hum Genome Var Data Report Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms. Nature Publishing Group UK 2023-07-14 /pmc/articles/PMC10349042/ /pubmed/37452054 http://dx.doi.org/10.1038/s41439-023-00248-7 Text en © The Author(s) 2023 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
Kido, Jun
Egami, Kimiyasu
Misumi, Yohei
Sugawara, Keishin
Tsuchida, Naomi
Matsumoto, Naomichi
Ueda, Mitsuharu
Nakamura, Kimitoshi
X-linked intellectual disability related to a novel variant of KLHL15
title X-linked intellectual disability related to a novel variant of KLHL15
title_full X-linked intellectual disability related to a novel variant of KLHL15
title_fullStr X-linked intellectual disability related to a novel variant of KLHL15
title_full_unstemmed X-linked intellectual disability related to a novel variant of KLHL15
title_short X-linked intellectual disability related to a novel variant of KLHL15
title_sort x-linked intellectual disability related to a novel variant of klhl15
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349042/
https://www.ncbi.nlm.nih.gov/pubmed/37452054
http://dx.doi.org/10.1038/s41439-023-00248-7
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