Table 1.
Clinical, genetic and functional information of mutation carriers
| Case | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | M | F | F | M | M | M | F | M | F | F | M | M | F | M | F | M |
| Age at diagnosis | 4 | 2.5 | 4 | 2.4 | 5 | 8 | 2.9 | 4 | 6 | 1 | Unk | 8 | 12 | 8 | 6 | 8 |
| Ethnicity | Saudi Arabian | Qatar | Egypt | Saudi Arabian | Israeli | Mexican | Saudi Arabian | Kuwaiti | Israeli | Indian | Mexican | Algerian | German | Saudi Arabian | Indian | Saudi Arabian |
| Var Build 19 | 1:1749284 | 1:1747244 | 1:1747207 | 1:1736021 | 1:1736013 | 1:1736016 | 1:1736014 | 1:1736008 | 1:1736001 | 1:1736001 | 1:1736001 | 1:1735972 | 1:1735935 | 1:1720492 | 1:1718877 | 1:1718784 |
| NM_002074 | c.88C>T | c.154C>G | c.191G>T | c.268-1G>T | c.272_275del | c.272A>G | c.274G>A | c.280C>T | c.287G>T | c.287G>T | c.287G>T | c.316G>A | c.353A>G | c.915_916del | c.917-1G>T | c.1009A>C |
| NP_002065 | p.L30F | p.R52G | p.G64V | p.? | p.? | p.H91R | p.A92T | p.P94S | p.R96L | p.R96L | p.R96L | p.A106T | p.D118G | p.? | p.? | p.K337Q |
| Location of mut. | Exon 4 | Exon 5 | Exon 5 | Intron 6 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 10 | Intron 10 | Exon 11 |
| Type of mut. | ms | ms | ms | ss | fs | ms | ms | ms | ms | ms | ms | ms | ms | fs | ss | ms |
| Change in function | No | Yes | Yes | Not tested | Not tested | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Not tested | Not tested | No |
| CADD score (v1.3) | 22 | 21 | 33 | 27 | 35 | 18 | 25 | 23 | 26 | 26 | 26 | 24 | 29 | 35 | 26 | 24 |
| Inheritance | De novo | De novo | De novo | De novo | De novo | Unk | De novo | Unk | Dominant | Dominant | Dominant | De novo | De novo | De novo | Unk | De novo |
| GDD | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Growth delay | Yes | No | No | No | Yes | Yes | No | No | Yes | No | No | No | No | No | Yes | No |
| Muscular hypotonia | Yes | No | No | Yes | No | Yes | Yes | No | No | No | No | No | Yes | Yes | Yes | No |
| ID | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | No | Yes | Yes | Yes | Yes |
| Seizures | Yes | No | No | No | Yes | Yes | Yes | No | Yes | No | Yes | Yes | No | Yes | Yes | Yes |
| Cranniosynostosis | No | No | No | Yes | Yes | No | No | No | No | No | No | Yes | No | No | No | No |
| Cerebellar hypoplasia | No | Yes | No | No | No | Yes | Yes | No | No | No | No | No | No | No | No | No |
| Abnormal myelination | No | No | No | Yes | Yes | No | No | No | Yes | No | Yes | No | No | Yes | No | Yes |
| Ophthalmoplegia | No | Yes | No | Yes | No | No | No | Yes | Yes | No | No | No | No | No | No | No |
| Nystagmus | Yes | Yes | No | No | Yes | Yes | No | No | Yes | No | Yes | No | No | Yes | Yes | Yes |
| Ataxia | Yes | Yes | No | No | Yes | No | Yes | No | No | No | No | No | No | No | Yes | No |
| Chorea | No | No | No | No | No | No | No | Yes | No | No | No | No | No | No | No | No |
| Dystonia | No | No | No | No | No | No | No | No | No | No | No | No | Yes | No | No | No |
Unk, unknown; ss, splice site; fs, Frameshift; ms, missense; GDD, global developmental delay; ID, intellectual disability; CADD, combined annotation dependent depletion.