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 | – |