A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.
Ayumi ShishidoNaoya MorisadaKenta TominagaHiroyasu UemuraAkiko HarunaHiroaki HanafusaKandai NozuKazumoto IijimaPublished in: Human genome variation (2020)
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.
Keyphrases
- hypertrophic cardiomyopathy
- left ventricular
- intellectual disability
- case report
- end stage renal disease
- autism spectrum disorder
- healthcare
- chronic kidney disease
- newly diagnosed
- ejection fraction
- peritoneal dialysis
- photodynamic therapy
- physical activity
- optical coherence tomography
- atrial fibrillation
- drug induced