Table 2.
Genotypes of KIF4A and GLOD5 variants obtained through Sanger Sequencing for available members of family.
| Individual ID | Affected status |
KIF4A genotypes for Arg771Lys variant at ChrX:69,615,600a,b |
GLOD5 genotypes for Asp102 Asn variant at ChX:48,629,445 a,b |
|---|---|---|---|
| 3 | affected male proband | A | A |
| 2 | unaffected female | AG | AG |
| 4 | affected male twin | A | A |
| 5 | affected male | A | A |
| 7 | unaffected female | AG | AG |
| 12 | unaffected female | AG | GG |
| 13 | unaffected male | G | G |
| 14 | unaffected female | GG | GG |
| 16 | unaffected female | GG | GG |
aReference allele G and balternative allele A.