Ontology highlight
ABSTRACT:
SUBMITTER: Shishido A
PROVIDER: S-EPMC7429835 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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
<i>NAA10</i>-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 <i>NAA10</i> was detected. We recommend that patients undergo precise medical foll ...[more]