Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism

Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of HSPD1 c.139T > G (...

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Autores principales: Yamamoto, Toshiyuki, Yamamoto-Shimojima, Keiko, Ueda, Yuki, Imai, Katsumi, Takahashi, Yukitoshi, Imagawa, Eri, Miyake, Noriko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053359/
https://www.ncbi.nlm.nih.gov/pubmed/30083362
http://dx.doi.org/10.1038/s41439-018-0020-z
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author Yamamoto, Toshiyuki
Yamamoto-Shimojima, Keiko
Ueda, Yuki
Imai, Katsumi
Takahashi, Yukitoshi
Imagawa, Eri
Miyake, Noriko
Matsumoto, Naomichi
author_facet Yamamoto, Toshiyuki
Yamamoto-Shimojima, Keiko
Ueda, Yuki
Imai, Katsumi
Takahashi, Yukitoshi
Imagawa, Eri
Miyake, Noriko
Matsumoto, Naomichi
author_sort Yamamoto, Toshiyuki
collection PubMed
description Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of HSPD1 c.139T > G (p.Leu47Val) and HIP1 c.1393G > A (p.Glu465Lys), respectively. These novel variants were predicted to be pathogenic. Both patients also had a known MECP2 variant, c.499C > T (p.Arg167Trp).
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spelling pubmed-60533592018-08-06 Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism Yamamoto, Toshiyuki Yamamoto-Shimojima, Keiko Ueda, Yuki Imai, Katsumi Takahashi, Yukitoshi Imagawa, Eri Miyake, Noriko Matsumoto, Naomichi Hum Genome Var Data Report Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of HSPD1 c.139T > G (p.Leu47Val) and HIP1 c.1393G > A (p.Glu465Lys), respectively. These novel variants were predicted to be pathogenic. Both patients also had a known MECP2 variant, c.499C > T (p.Arg167Trp). Nature Publishing Group UK 2018-07-19 /pmc/articles/PMC6053359/ /pubmed/30083362 http://dx.doi.org/10.1038/s41439-018-0020-z Text en © The Author(s) 2018 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
Yamamoto, Toshiyuki
Yamamoto-Shimojima, Keiko
Ueda, Yuki
Imai, Katsumi
Takahashi, Yukitoshi
Imagawa, Eri
Miyake, Noriko
Matsumoto, Naomichi
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
title Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
title_full Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
title_fullStr Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
title_full_unstemmed Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
title_short Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
title_sort independent occurrence of de novo hspd1 and hip1 variants in brothers with different neurological disorders – leukodystrophy and autism
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053359/
https://www.ncbi.nlm.nih.gov/pubmed/30083362
http://dx.doi.org/10.1038/s41439-018-0020-z
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