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. 2020 Aug 17:7:23.
doi: 10.1038/s41439-020-00110-0. eCollection 2020.

A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy

Ayumi Shishido  1   2 , Naoya Morisada  3   4 , Kenta Tominaga  5 , Hiroyasu Uemura  6 , Akiko Haruna  7 , Hiroaki Hanafusa  8 , Kandai Nozu  4 , Kazumoto Iijima  4
Affiliations

A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy

Ayumi Shishido et al. Hum Genome Var. .

Abstract

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.

Keywords: Cardiac hypertrophy; Paediatric neurological disorders.

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Conflict of interest statement

Conflict of interestKazumoto Iijima received grants from Zenyaku Kogyo Co., Ltd.

Figures

Fig. 1
Fig. 1. The results of the cardiac and genetic testing in the patient.
a Echocardiography of the patient at 1 year of age. b NAA10 mutations were identified in the patient and his mother by the Sanger method. Red letters indicate deleted nucleotides. c The genotype of the NAA10 mutation in male patients of the present case and literature. The bold face indicates hypertrophic myopathy, and the dotted line shows microphthalmia or anophthalmia.
See this image and copyright information in PMC

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