Table 1 Clinical comparison of our patients with 31 previously reported ASNSD cases1,5,6,7,8,9,10,11,12,13,14,15,16,17
Neurological features | MRI findings | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Publication | Family | Ethnicity | ASNS mutation (new variant) | Patient number | Gender | Age at report | Birth weight [g] | Birth head circumference [cm] | Microcephaly | Abnormal EEG | Epilepsy (age of onset) | Hyperekplexia | Hyperreflexia | Axial hypotonia | Psychomotor delay | Decreased cerebral volume | Decreased size of pons and/or cerebellum |
Ruzzo et al.1 | 1 | Iranian Jews | c.1084T>G (1) p.F362V | 1 | M | 14 y | NA | 31.5 | + | + | +(1 m) | − | + | − | + | + | + |
2 | Iranian Jews | c.1084T>G p.F362V | 2 | M | 14 y | NA | 31 | + | + | +(2 w) | − | + | − | + | + | + | |
3 | F | 12 y | NA | 31 | + | + | +(3 w) | − | + | − | + | + | + | ||||
3 | Bangladeshi | c.1648 C>T (2) p.R550C | 4 | M | 4 m | 3400 | 31.5 | + | + | − | + | + | − | + | + | + | |
5 | M | 3 m | 3520 | 33 | + | + | − | + | + | + | + | + | + | ||||
6 | M | 6 m | 3230 | 32 | + | + | − | + | + | + | + | + | + | ||||
4 | French Canadian | c.17C>A (3)/c.1648 C>T p.A6E/p.R550C | 7 | M | 9 d | NA | 31.5 | NA | NA | +(4 d) | − | + | + | + | + | + | |
8 | M | 11 m | NA | 31 | + | + | +(9 m) | − | + | + | + | + | + | ||||
9 | M | 12 m | 2160 | 28.5 | + | + | +(8 d) | − | + | + | + | + | + | ||||
Alfadhel et al.6 | 5 | Saudi Arabian | c.1193A>G (4) p.Y398C | 10 | M | 5 y | 3100 | 29.5 | + | + | +(1 d) | − | + | + | + | + | + |
11 | F | 4 y | 2650 | 26.5 | + | + | +(1 d) | − | + | + | + | + | + | ||||
Ben Salem et al.7 | 6 | Emirati | c.1193A>C (5) p.Y398C | 12 | M | 5 y | 3100 | 29.5 | + | + | +(1 d) | − | + | NA | + | + | + |
Palmer et al.12 | 7 | Chinese/Brunei | c.866G>C (6)/c. 1010C>T (7) p.G289A/p. T337I | 13 | M | 7 y | 3340 | 32.5 | + | + | +(1 m) | − | + | + | + | + | + |
Reed et al.8 | 8 | Yemeni | c.198_202delATATC (8) p.K66Nfs*10 | 14 | F | 3 m | 2600 | 31 | + | + | − | + | + | + | + | − | − |
Sun et al.24 | 9 | Indian | c.1019G>A (9) p.R340H | 15 | F | 11 m | 2220 | 30.5 | + | + | − | − | + | + | + | + | + |
16 | F | 5 m | 2240 | 28.5 | NA | − | − | + | + | + | + | + | + | ||||
Seidahmed et al.15 | 10 | Saudi Arabian | c.1219C>T (10) p. R407* | 17 | M | 9 m | 2675 | 29 | + | + | +(NA) | + | + | − | NA | + | + |
11 | Saudi Arabian | c.944A>G (11) p.Y315C | 18 | M | 4 y | 2790 | 29 | + | + | − | + | + | − | + | + | + | |
Gataullina et al.10 | 12 | NA | c.1439C>T (12)/c.1648 C>T p.S480F/p.R550C | 19 | M | 8 m | 3760 | 34 | + | + | +(24 h) | − | NA | + | + | + | + |
20 | F | 8 m | NA | 31 | + | + | +(4 m) | + | NA | NA | + | + | + | ||||
Yamamoto et al.17 | 13 | Japanese | c.434T>C (13)/c.740T>G (14) p.L145S/p.L247W | 21 | M | 26 m | 2408 | 29 | + | + | +(7 m) | (+) | + | + | + | + | + |
14 | Japanese | c.1466T>A (15)/c.1623–1624del (16) p.V489D/p.W541Cfs* | 22 | M | 19 m | 3122 | 33.4 | + | + | +(3 m) | + | + | + | + | + | + | |
Gupta et al.11 | 15 | Indian | c.1138G>T (17) p.A380S | 23 | F | 2.5 y | NA | NA | + | + | +(3 m) | − | + | + | + | + | + |
Abhyankar et al.5 | 16 | NA | c.728T>C (18)/c.1097G>A (19) p.V243A/p. G366E | 24 | NA | 15 m | NA | NA | + | NA | +(NA) | NA | NA | NA | + | + | + |
Sacharow et al.13 | 17 | Emirati | c.146G>A (20) p.R49Q | 25 | M | 7 y | 3400 | 34 | + | + | +(6 m) | − | NA | − | + | + | NA |
26 | F | 4 y | 3000 | NA | + | + | +(6 m) | − | + | + | + | + | NA | ||||
Galada et al.9 | 18 | Indian | c.1211G>A (21) p.R404H | 27 | M | 10 d | 2030 | 29.5 | + | NA | +(24 h) | − | + | NA | NA | + | + |
19 | Indian | c.224A>G (22)/c.413A>C (23) p.N75S/p.D138A | 28 | F | NA | 2300 | 29 | + | NA | − | − | + | NA | NA | + | + | |
20 | Indian | c.1649 G>A (24) p.R550H | 29 | M | 13 m | 2800 | 30 | + | NA | +(24 h) | − | + | NA | + | + | + | |
Schleinitz et al.14 | 21 | German | c.1165G>C (25)/c.601delA (26) p.E389Q/p.M201Wfs*28 | 30 | F | 19 y | 3320 | 29.5 | + | + | +(24 h) | − | + | + | + | + | + |
31 | F | 16 y | 2450 | 30 | + | + | +(1 m) | − | + | + | + | NA | NA | ||||
This report | 22 | Turkish | c.1108C>T (27) p.L370F | 32 | M | 5.5 y | 3100 | 33 | + | + | +(2 m) | − | + | + | + | + | − |
33 | M | 3.5 y | 3000 | 31 | + | + | +(6 m) | − | + | + | + | + | − | ||||
