TABLE 1.
reported cases associated with deleterious variants in SDHA
| Publication details | Age at presentation | SDHA variant(s) | Phenotype |
|---|---|---|---|
| Courage et al. (2017) | 15 years | Heterozygous c.1351C>T (p.Arg451Cys) | Ocular paresis, nystagmus, pyramidal signs, ataxia, cardiomyopathy with cardiomegaly, recurrent depression |
| 8 months | Heterozygous c.1351C>T (p.Arg451Cys) | Dilated cardiomyopathy, bilateral optic atrophy, elevated urinary 3‐methylglutaconic and 3OH‐ methylglutaric excretion | |
| 7 months | Heterozygous c.1351C>T (p.Arg451Cys) | Deceased due to cardiac insufficiency with dilated cardiomyopathy, marginally elevated blood lactate, elevated urinary 3‐methylglutaconic and 3OH‐methylglutaconic excretion | |
|
Taylor et al. (1996) Birch‐Machin et al. (2000) |
46 years | Heterozygous c.1375C>T (p.Arg408Cys) | Ataxia, diplopia, limb weakness, episodic unresponsiveness without convulsions, bilateral optic atrophy |
| 62 years | Heterozygous c.1375C>T (p.Arg408Cys) | Ataxia, diplopia, blackouts, dysesthesia, bilateral optic atrophy, nystagmus on lateral and upward gaze | |
|
Bourgeois et al. (1992) Bourgeron et al. (1995) |
10 months | Homozygous c.1684C>T (p.Arg544Trp) | Leigh syndrome |
| 10 months | Homozygous c.1684C>T (p.Arg544Trp) | Leigh syndrome | |
| Renkema et al. (2015) | Birth | Compound heterozygous c.356G>A (p.Try119*) and c.248C>T (p.Ala83Gln104del) | Developmental regression, epilepsy, Leigh syndrome |
| Birth |
Compound heterozygous c.91C>T (p.Arg31*) and c.565 T>G (p.Cys189Gly) |
Developmental regression, epilepsy, apneas, Leigh syndrome, hepatomegaly, leukodystrophy, psychomotor retardation | |
| 4 weeks | Homozygous c.1065‐3C>A | Psychomotor retardation, epilepsy, leukodystrophy | |
| 16 months | Homozygous c.64‐2A>G | Developmental regression, myopathy, chorea, tremor, Leigh syndrome | |
| Parfait et al. (2000) | 9 months | Compound heterozygous c.1595C>T (p.Ala24Val) and c.25A>C (Met initiation codon to Leu) | Psychomotor delay, Leigh syndrome |
| Horvath et al. (2006) | 5 months | Compound heterozygous nonsense mutation (p.Trp119*), missense mutation (p.Arg83Val) | Leigh syndrome |
| Pagnamenta et al. (2006) | 22 months | Homozygous c.1664G>A (p.Gly555Glu) | Leigh syndrome |
| Alston et al. (2012) | 3 months | Compound heterozygous c.1523C>T (p.Thr508Ile) and c.1526C>T (p.Ser509Leu) | Cardiomegaly, developmental delay, hypotonia, leukodystrophy |
| Levitas et al. (2010) | Various; 15 patients aged between 32 weeks gestation to 10 years | All 15 patients: homozygous c.1664G>A (p.Gly555Glu) | Dilated cardiomyopathy |
| Ma et al. (2014) | 4 years | Compound, heterozygous: c.G117G/del (stop codon at residue position 56) and c.T220 T/insT stop codon at residue position 81) | Leigh‐like syndrome‐ progressive neuromuscular decline and gross motor developmental regression, |
| Van Coster et al. (2003) | 5.5 months | Homozygous c1664G>A (p.Gly555Glu) | Unknown syndrome with hypotonia, hepatosplenomegaly, cardiomegaly, and inspiratory wheezing resulting in the death from respiratory infection |
| Current Proband | 2 years | Compound heterozygous c.91C>T (p.Arg31*) and c.454G>A (p.Glu152Lys) | Moderate intellectual disability, ataxia, nystagmus, hypotonia, cerebellar atrophy |