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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Detalles Bibliográficos
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
Descripción
Sumario: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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