Table 2.
Summary of Sequence Variations in KIF22 in Lepto-SEMDJL Patients
| Individual |
Familial Cases |
Simplex Cases |
||||||
|---|---|---|---|---|---|---|---|---|
| F-1 (II-5a) | F-2 (III-1a) | F-3 (III-2a) | S-1 | S-2 | S-3 | S-4 | S-5 | |
| KIF22 Sequence Variants | ||||||||
| Mutation | c.442C>T (p.Pro148Ser) | c.442C>T (p.Pro148Ser) | c.442C>T (p.Pro148Ser) | c.446G>A (p.Arg149Gln) | none (none) | c.446G>A (p.Arg149Gln) | c.443C>T (p.Pro148Leu) | c.443C>T (p.Pro148Leu) |
| Polymorphism | rs235648 rs2450399 | rs235648 rs2450399 | rs235648 rs2450399 | rs235648 rs2450399 rs67578835 | rs235648 rs2450399 | c.695G>A (p.Arg232Gln) rs235648 rs2450399 | rs235648 rs2450399 c.1677+124>T | rs235648 rs2450399 |
| Parental Genotypes | ||||||||
| Mother | n.a. | individual F-1 | individual F-1 | rs235648 rs2450399 rs67578835 | rs235648 rs2450399 rs67578835 | rs235648 rs2450399 c.695G>A (p.Arg232Gln) | rs235648 rs2450399 c.1677+124>T | rs235648 rs2450399 |
| Father | n.a. | rs235648 rs2450399 | rs235648 rs2450399 | rs235648 rs2450399 | n.a.b | n.a.b | rs235648 rs2450399 | rs235648 rs2450399 |
a
In Figure 2.
b
n.a. is used as an abbreviation for not available.