Table 1 Clinical features of the three patients

From: A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

General information Patient II-1, Family 1 Patient II-2, Family 1 Patient II-1, Family 2
Gender M M M
Variant in NAA10 (coding, protein and genomic position) NM_003491.3, c.215T>C,p.(Ile72Thr), chrX:153198002A>G (hg19) NM_003491.3, c.215T>C,p.(Ile72Thr), chrX:153198002A>G (hg19) NM_003491.3, c.215T>C,p.(Ile72Thr), chrX:153198002A>G (hg19)
Variant detected by WES, confirmed Sanger WES, confirmed Sanger WES, confirmed Sanger
Inheritance Maternal Maternal Maternal
Gestational week NA Full term Full term
Age at last investigation 8y 6mo 5y 6mo 3y 3mo
Birth and growth parameters
  Weight (kg/SDS) At birth: NA At birth: 3.629 kg (28,3%) At birth: 3.827 kg
8y 6mo: 24.2 kg (17%) 5y 6mo: 17.5 kg (36%) 3y 3mo: 13.73 kg (25%)
  Length (cm/SDS) At birth: NA At birth: (25%) At birth: 52.7 cm
8y 6mo: 124.7 cm (24%) 5y 6mo: 103.7 cm (15%) 3y 3mo: 91.2 cm (7%)
  Head circumference (cm/SDS) At birth: NA At birth (37%) At birth: NA
NA NA 3y: 49.4 cm
Neurological
  Development delay or ID Yes Yes Yes
  Behavioral anomalies Yes No No
  Delayed motor development Yes Yes Yes
  Age of walking 19mo NA 18mo
  Age of first words At 4 years not 2 words together NA 15mo
  Speech abilities Delayed Delayed Delayed
Brain imaging Thin corpus callosum, relative paucity of frontal lobe Not performed Mild periventricular leukomalacia, medulloblastoma
Organs Hypertrophic cardiomyopathy, inguinal hernia Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Skeletal Delayed closure of anterior fontanelle, barrel chest, high-arched palate
Facial Rather thick lips, large, wide-spaced teeth, very blond
Other Dysphagiogram because of excessive drooling
  1. NA not available