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A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.

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.

SUBMITTER: Shishido A

PROVIDER: S-EPMC7429835 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.

Shishido Ayumi A Morisada Naoya N Tominaga Kenta K Uemura Hiroyasu H Haruna Akiko A Hanafusa Hiroaki H Nozu Kandai K Iijima Kazumoto K

Human genome variation 20200817

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 foll ...[more]

PMID: 32864149

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