Table 1.
Comparison of the Phenotypic Features of Seven Individuals with ATAD3A Variants
|
Monoallelic |
Biallelic |
|||||||
|---|---|---|---|---|---|---|---|---|
| Family 1, II-2 | Family 2, II-4 | Family 3, II-1 | Family 4, II-1 | Family 5, II-1 | Family 6, II-1 | Family 6, II-2 | Family 7, II-1 | |
| Age at last exam | 9 years | 5 years | 3 years | 5 years | 23 months | 26 years | 24 years | 5 days |
| Gender | F | F | M | F | M | F | M | F |
| DD | + | + | + | + | + | + | + | NR |
| ID | + (mild) | + | + | + | + | + (mild) | − | NR |
| Seizures | − | − | − | − | − | + | + | + |
| Optic atrophy | + | − | + | + | − | − | − | − |
| Congenital cataract | − | − | − | − | − | + | + | − |
| Corneal clouding | − | − | − | − | − | − | − | + |
| Hypotonia | + | + | + | + | + | + | + | + |
| Spasticity | + | + | + | + | − | − | − | + |
| Pectus carinatum | − | − | + | − | − | − | + | − |
| Peripheral neuropathy | + | + | + | + | borderline | − | − | NR |
| Hypertrophic cardiomyopathy | − | − | + | + | − | − | − | mild RVH with septal hypertrophy (newborn) |
| Elevated plasma lactate | − | + (mild) | + (intermittent) | + | NR | NR | + | NR |
| Cerebellar atrophy/ hypoplasia | − | − | − | − | − | + (moderate) | + (mild) | + (severe) |
| MR spectroscopy | normal | NR | lactate peak | NR | NR | reduction of left cerebellar hemisphere NAA | normal | reduction of NAA, increased choline |
| Other | ADHD | deficiency complex I+III | methyl-glutaconic aciduria; growth hormone deficiency; dystonia | methyl-glutaconic aciduria; deficiency complex II+III, II+CS | 47,XXY | delayed puberty, hyposomia | delayed puberty, delayed bone age, hyposomia, cryptorchidism | smooth sulcal/gyral pattern, hypoplasia of posterior fossa structures, intubated at birth; deceased at 13 days |
Abbreviations are as follows: ADHD, attention deficit hyperactivity disorder; CS, citrate synthase; DD, developmental delay; F, female; ID, intellectual disability; IQ, intelligence quotient; M, male; MR, magnetic resonance; NAA, N-acetyl aspartate; NR, not reported; RVH, right ventricular hypertrophy.