Table 5.
Congenital myasthenic syndrome gene frequencies in current and selected previously published cohorts
| Abicht et al.13 (predominantly European) | Engel et al.1 (Worldwide) | Parr et al.4 (UK) | Estephan et al.14 (Brazil) | Yis et al.15 (Turkey) | Aharoni et al.16 (Israel) | Natera-de Benito et al.5 (Spain) | Zhao et al.17 (China) | Current study (India) | |
|---|---|---|---|---|---|---|---|---|---|
| Total no. of CMS families with molecular diagnosis | 299 | 356 | 123 | 52 | 43 | 35 | 47 | 29 | 132 |
| Acetylcholine receptor subunit genes | |||||||||
| CHRNE | 148 (49.5%) | 180 (50.5%) | 46 (37.4%) | 25 (48.1%) | 14 (32.5%) | 7 (20%) | 10 (21.3%) | 5 (17.2%) | 52 (39.4%) |
| CHRNA1 | 5 (1.7%) | 5 (4.1%) | 1 (1.9%) | 1 (2.1%) | 1 (3.4%) | 1 (0.8%) | |||
| CHRNB1 | 3 (1%) | 1 (2.1%) | 1 (0.8%) | ||||||
| CHRND | 3 (1%) | 2 (1.6%) | 1 (1.9%) | 1 (2.3%) | 1 (3%) | 3 (2.3%) | |||
| CHRNG | 4 (8.5%) | ||||||||
| Neuromuscular junction development and maintenance genes | |||||||||
| DOK7 | 31 (10.4%) | 35 (9.8%) | 22 (17.9%) | 3 (5.8%) | 1 (3%) | 5 (10.6%) | 1 (3.4%) | 19 (14.4%) | |
| MUSK | 1 (0.3%) | 1 (0.3%) | 2 (4.6%) | 8 (6.1%) | |||||
| AGRN | 1 (2.3%) | 5 (17.2%) | 2 (1.8%) | ||||||
| RAPSN | 43 (14.4%) | 51 (14.3%) | 34 (27.6%) | 6 (11.5%) | 13 (37%) | 9 (19.1%) | 1 (0.8%) | ||
| MACF1 | 1 (0.8%) | ||||||||
| Synaptic basal lamina genes | |||||||||
| COLQ | 38 (12.7%) | 45 (12.6%) | 12 (9.7%) | 2 (3.8%) | 14 (32.5%) | 11 (31%) | 9 (19.1%) | 4 (13.8%) | 6 (4.5%) |
| COL13A1 | 3 (5.8%) | ||||||||
| Glycosylation genes | |||||||||
| DPAGT1 | 2 (0.6%) | 13 (9.8%) | |||||||
| GFPT1 | 12 (2%) | 11 (3.1%) | 2 (3.8%) | 1 (2.3%) | 1 (3%) | 5 (10.6%) | 8 (27.6%) | 10 (7.6%) | |
| GMPPB | 1 (1.9%) | 1 (2.1%) | 2 (6.9%) | 7 (5.3%) | |||||
| COG7 | 1 (3.4%) | ||||||||
| Presynaptic genes | |||||||||
| CHAT | 15 (5%) | 18 (5.1%) | 2 (1.6%) | 1 (1.9%) | 8 (18.6%) | 1 (3%) | 2 (4.2%) | 1 (3.4%) | |
| MYO9A | 2 (4.6%) | ||||||||
| VAMP1 | 3 (2.3%) | ||||||||
| SLC25A1 | 1 (3.4%) | 1 (0.8%) | |||||||
| Other CMS genes | |||||||||
| SCN4A | 1 (0.3%) | 2 (3.8%) | |||||||
| PLEC | 2 (0.6%) | ||||||||
| PREPL | 1 (0.3%) | ||||||||
| DES | 3 (2.3%) | ||||||||
| TEFM | 1 (0.8%) | ||||||||
CMS = congenital myasthenic syndrome.