Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability,...

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Detalles Bibliográficos
Autores principales: Yokoi, Takayuki, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji, Higurashi, Norimichi
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/PMC7235239/
https://www.ncbi.nlm.nih.gov/pubmed/32435502
http://dx.doi.org/10.1038/s41439-020-0102-6
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author Yokoi, Takayuki
Enomoto, Yumi
Naruto, Takuya
Kurosawa, Kenji
Higurashi, Norimichi
author_facet Yokoi, Takayuki
Enomoto, Yumi
Naruto, Takuya
Kurosawa, Kenji
Higurashi, Norimichi
author_sort Yokoi, Takayuki
collection PubMed
description Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.
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spelling pubmed-72352392020-05-20 Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder Yokoi, Takayuki Enomoto, Yumi Naruto, Takuya Kurosawa, Kenji Higurashi, Norimichi Hum Genome Var Data Report Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A. Nature Publishing Group UK 2020-05-18 /pmc/articles/PMC7235239/ /pubmed/32435502 http://dx.doi.org/10.1038/s41439-020-0102-6 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
Yokoi, Takayuki
Enomoto, Yumi
Naruto, Takuya
Kurosawa, Kenji
Higurashi, Norimichi
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
title Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
title_full Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
title_fullStr Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
title_full_unstemmed Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
title_short Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
title_sort tatton-brown-rahman syndrome with a novel dnmt3a mutation presented severe intellectual disability and autism spectrum disorder
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235239/
https://www.ncbi.nlm.nih.gov/pubmed/32435502
http://dx.doi.org/10.1038/s41439-020-0102-6
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