Table 3 Demographics and disease characteristics
From: Cognitive functioning and mental health in children with a primary mitochondrial disease
Patient number | Mutation | Level of heteroplasmy* | Clinical syndrome | Gender | Age | Age of onset | Motor disability | Vision problems | Hearing problems | Epilepsy | IPMDS score |
|---|---|---|---|---|---|---|---|---|---|---|---|
Average or above IQ (IQ ≥ 80; n = 13) | |||||||||||
1 | mDNA 3243 A > G | 81% (urine) |  | M | 10 | 10 y | 1 | 0 | 0 | 0 | 13 |
2 | mDNA 3243 A > G | 85% (urine) |  | M | 16 | 17 y | 1 | 0 | 0 | 0 | NA |
3 | mitochondrial deletion, 9101_14603del | Â | CPEO | F | 16 | 14 y | 0 | 0 | 0 | 0 | 12 |
4 | mDNA 3242 A > G | 71% (urine), 53% (cheek swab) |  | F | 9 | 9 y | 0 | 0 | 0 | 0 | 12 |
5 | mitochondrial deletion, 8470_13446del | Â | CPEO | M | 13 | 5 y | 1 | 0 | 0 | 0 | NA |
6 | mitochondrial deletion, 8649_16084del | 35% (muscle) | CPEO | M | 11 | 3 y | 1 | 0 | 0 | 0 | 5 |
7 | mDNA 3243 A > G | 46% |  | M | 15 | 10 y | 1 | 0 | 0 | 0 | NA |
8 | NDUFS7, c.364G > A (p.Val122Met), homozygous |  | Leigh | F | 5 | 2 y | 1 | 0 | 0 | 0 | NA |
9 | mDNA 04,300 A > G | 73% |  | M | 5 | 18 mo | 0 | 0 | 0 | 0 | NA |
10 | mDNA 8993T > G | 99% | Leigh | M | 7 | 18 mo | 1 | 0 | 0 | 0 | NA |
11 | mDNA 3243 A > G | 47% | MELAS | M | 13 | 12 y | 0 | 0 | 0 | 1 | 11 |
12 | FXN homozygous expansion repeats |  | Friedreich’s ataxia | M | 11 | 5 y | 0 | 0 | 0 | 0 | NA |
13 | mDNA 4404T > C | 11%, 96% (muscle) |  | F | 10 | 9 y | 1 | 0 | 0 | 0 | 32 |
Borderline IQ (IQ = 70–79; n = 8) | |||||||||||
14 | mDNA 3243 A > G | 75% (muscle) 96% (urine) |  | M | 11 | 11 y | 1 | 0 | 0 | 0 | NA |
15†| mDNA 3243 A > G | 90% (muscle) | MELAS | M | 12 | 9 y | 0 | 0 | 0 | 0 | NA |
16 | mDNA 7507 A > G | 97% |  | M | 7 | 2 y | 1 | 1 | 1 | 0 | NA |
17†| SURF1, c.312_321delinsAT (p.Leu105*), homozygous |  | Leigh | F | 2 | first year | 1 | 0 | 0 | 0 | NA |
18†| RRM2B, 1045 G > A (pAla349Thr), homozygous |  |  | F | 1 | 2 mo | 1 | 0 | 1 | 0 | NA |
19 | NDUFS1, c.683T > C, (p.Val228Ala), 737 + 3A > G (spl?) |  |  | F | 15 | 14 y | 1 | 1 | 0 | 0 | NA |
20 | mDNA 3243 A > G | 40% |  | F | 16 | 14 y | 0 | 0 | 0 | 0 | NA |
21 | mDNA 09,185T > C |  | NARP | M | 8 | 6 y | 1 | 1 | 1 | 0 | NA |
Clinically low IQ (IQ < 70; n = 12) | |||||||||||
22 | mDNA 3243 A > G | 65% |  | F | 12 | 10 y | 1 | 0 | 0 | 0 | 16 |
23 | mDNA 3243 A > G | 87% (muscle) | MELAS | M | 16 | 10 y | 1 | 0 | 1 | 1 | NA |
24 | FBXL4 c.1641_1642del (p.Cys547*), c.1252G > C (p.Ala418Pro) |  |  | F | 7 | first year | 1 | 0 | 0 | 0 | NA |
25 | SDHA c.1535G > A (p.Arg512Gln), c.1753C > T (p.Arg585Trp) |  |  | M | 4 | 6 mo | 1 | 0 | 0 | 1 | 9 |
26 | SDHA, c.64-2A > G, splicing defect homozygous |  |  | M | 11 | 15 mo | 1 | 0 | 0 | 0 | 63 |
27 | RARS2, c.442A > G (p.Thr148Ala), c.1519G > A (p.Glu507Lys) |  |  | M | 17 | 9 mo | 1 | 0 | 0 | 0 | NA |
28 | RARS2, c.442A > G (p.Thr148Ala), c.1519G > A (p.Glu507Lys) |  |  | F | 12 | first year | 1 | 0 | 0 | 0 | NA |
29 | OPA1, c.1156_1157del (pLeu386Glufs*2) | Â | DOAplus | F | 3 | 8 mo | 1 | 1 | 0 | 1 | NA |
30 | FBXL4, c.1361A > C (p.Gln454Pro), homozygous |  |  | M | 6 | after birth | 1 | 1 | 1 | 1 | NA |
31 | SUCLA2 1271delG9p (pGly424Aspfs*18), homozygous | Â | Â | M | 4 | 5 mo | 1 | 1 | 1 | 0 | 96 |
32 | ACO2 2012G > A (pArg671Gln), 2050C > T(pArg684Trp) |  |  | F | 8 | 14 mo | 1 | 1 | 0 | 0 | 37 |
33†| NDUFS7 c.364G > A(pVal122Met) homozygous |  |  | M | 14 | 2 y | 1 | 0 | 0 | 0 | 134 |