A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy

NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient who exhibited mild ID, HCM,...

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Autores principales: Shishido, Ayumi, Morisada, Naoya, Tominaga, Kenta, Uemura, Hiroyasu, Haruna, Akiko, Hanafusa, Hiroaki, Nozu, Kandai, Iijima, Kazumoto
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/PMC7429835/
https://www.ncbi.nlm.nih.gov/pubmed/32864149
http://dx.doi.org/10.1038/s41439-020-00110-0
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author Shishido, Ayumi
Morisada, Naoya
Tominaga, Kenta
Uemura, Hiroyasu
Haruna, Akiko
Hanafusa, Hiroaki
Nozu, Kandai
Iijima, Kazumoto
author_facet Shishido, Ayumi
Morisada, Naoya
Tominaga, Kenta
Uemura, Hiroyasu
Haruna, Akiko
Hanafusa, Hiroaki
Nozu, Kandai
Iijima, Kazumoto
author_sort Shishido, Ayumi
collection PubMed
description NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient who exhibited mild ID, HCM, and specific facial features. A hemizygous mutation (NM_003491.3: c.455_458del, p. Thr152Argfs*6) in exon 7 of NAA10 was detected. We recommend that patients undergo precise medical follow-up considering the characteristics of NAA10-related syndrome.
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spelling pubmed-74298352020-08-27 A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy Shishido, Ayumi Morisada, Naoya Tominaga, Kenta Uemura, Hiroyasu Haruna, Akiko Hanafusa, Hiroaki Nozu, Kandai Iijima, Kazumoto Hum Genome Var Data Report NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient who exhibited mild ID, HCM, and specific facial features. A hemizygous mutation (NM_003491.3: c.455_458del, p. Thr152Argfs*6) in exon 7 of NAA10 was detected. We recommend that patients undergo precise medical follow-up considering the characteristics of NAA10-related syndrome. Nature Publishing Group UK 2020-08-17 /pmc/articles/PMC7429835/ /pubmed/32864149 http://dx.doi.org/10.1038/s41439-020-00110-0 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
Shishido, Ayumi
Morisada, Naoya
Tominaga, Kenta
Uemura, Hiroyasu
Haruna, Akiko
Hanafusa, Hiroaki
Nozu, Kandai
Iijima, Kazumoto
A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
title A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
title_full A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
title_fullStr A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
title_full_unstemmed A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
title_short A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
title_sort japanese boy with naa10-related syndrome and hypertrophic cardiomyopathy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429835/
https://www.ncbi.nlm.nih.gov/pubmed/32864149
http://dx.doi.org/10.1038/s41439-020-00110-0
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