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Table 1 Summary of significant clinical findings

From: Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

  Family 1 Family 2 Family 3 Family 4 (2 siblings) Family 5 (3 siblings) Family 6 Family 7 Family 8 (3 siblings)
ATAD3A variants (NM_001170535.1) ATAD3C-ATAD3A del (~ 67 KB); ATAD3B-ATAD3A del (~ 38 kb) ATAD3B-ATAD3A comp het del (~ 38 kb; ~ 38 kb) ATAD3B-ATAD3A del (~ 38 kb); c.229C>G; p.(Leu77Val) Exon 3–4 del (c.(282+1_283-1)_(444+1_445-1)del
c.150C>G; p.(Phe50Leu)
c.1141dup
p.(Val381Glyfs*17)
c.508C>T, p.(Arg170Trp)
c.1414del
p.(His472fs)
c.707G>T, p.(Gly236Val)
c.150C>G, p.(Phe50Leu); c.1703_1705delAGA, p.(Lys568del) c.980G>C, p.(Arg327Pro) (hom)
Age at last exam 13 d (deceased) 30 h (deceased) 19 mo (deceased at 2 y) Died shortly after birth 17–19 years 3 mo 15 y 6–7 mo (all deceased)
Developmental delay NR NR Global DD NR Moderate-severe learning difficulties NA Mild DD NR
Neurological exam Hypotonia, no respiratory effort Hypotonia, no respiratory effort NA Hypotonia, no respiratory effort Ataxia, muscle wasting Central hypotonia, increased peripheral tone Mild hypotonia NA
Congenital cataract + Cloudy corneas + Cloudy corneas (one sibling) One of 3 siblings + +
Hypertrophic cardiomyopathy + + + + + + +
Cerebellar atrophy/hypoplasia + + NA + + + + NA
Elevated 3-methylglutaconate in urine NA NA NA + NA NA NA +
Others Undescended testes Hearing loss GH deficiency
  1. Abbreviations: DD developmental delay, del deletion, dup duplication, GH growth hormone, hom homozygous, mo months, NA not available, NR not relevant, y years