Table 1 Overview of gender, nationality, molecular and genetic findings of individuals diagnosed with Biotin Thiamine Responsive Basal Ganglia Disease in Kuwait (n = 21)
Case# | Gender | Nationality | Current age (in years) | Symptomatic | Residual deficits | Radiological Findings | SLC19A3 c.DNA varianta | SLC19A3 amino acid change | Novel Variant | Consanguinity | Family history | Perinatal history |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | K | 36 | Yes | Yes |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | 2 affected cousins (Case 2 &16) Leigh disease Type 1 diabetes mellitus Mitochondrial dysfunction | Gestational HTN on treatment & maternal IDA on iron injections, Child NNJ & RD |
2 | M | NK | 25 | Yes | Yes |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | 2 affected cousins (case 1 & 16) Cousin with Leigh disease (Case 1) | Gestational HTN on methyldopa |
3 | F | K | 23 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Affected sibling (Case 4) & niece (Case 19) | Not reported |
4 | M | K | 18 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Affected sibling (Case 3) & niece (Case 19) | Unremarkable |
5 | M | K | 17 | Yes | Yes |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Unremarkable | Unremarkable |
6 | F | K | 15 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Affected younger sibling (Case 7) 2 paternal cousins with Leigh’s disease | Unremarkable |
7 | F | K | 15 | Yes | Yes |  +  | c.1264A > G (homozygous | p.Thr422Ala | No | Yes | Suspected elder sibling with clinical and radiological findings of BTBGD but not confirmed genetically | Unremarkable |
8 | F | K | 12 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Affected sister (Case 6) | Unremarkable |
9 | F | K | 10 | Yes | No |  +  | c.952G > A (homozygous) | p.Ala318Thr | Yes | Yes | Unremarkable | Unremarkable |
10 | M | K | 10 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Affected sibling (Case 15) | NICU admission for LBW |
11 | F | K | 9 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | 2 affected siblings (Case 12&20) | Unremarkable |
12 | F | K | 9 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | No | A relative with metabolic disease | Unremarkable |
13 | M | K | 8 | No | N/A | N/A | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | 2 affected siblings (Case 10&20) | Unremarkable |
14 | M | K | 8 | Yes | Yes |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Unremarkable | Unremarkable |
15 | F | J | 7 | Yes | Yes |  +  | c.175T > C (homozygous) | p.Trp59Arg | Yes | Yes | Infant deaths in cousins | PFO, tiny closing PDA |
16 | M | K | 6 | No | N/A | N/A | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Affected sibling (Case 9) Carrier sibling | ASD |
17 | F | K | 5 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | 2 affected cousins (case 1&2) | Unremarkable |
18 | M | K | 4 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Unremarkable | Unremarkable |
19 | M | K | 3 | Yes | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | 3 early miscarriages Hypothyroidism Absence seizure on Depakene | Maternal hypothyroidism, Maternal aunt with childhood absence seizure on Depakene |
20 | F | K | 2.5 | No | No |  +  | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | Affected maternal uncle & aunt (Case 3&4) | Unremarkable |
21 | F | K | 2 | Yes | N/A | N/A | c.1264A > G (homozygous) | p.Thr422Ala | No | Yes | 2 affected siblings (Case 10&12) | Unremarkable |