Table 3. Three out of 13 identified gene mutations (CABP4, FAM72D, MK167IP) in the ADNFLE pedigree were confirmed by Sanger sequencing.
Individual |
CaBP4 (G155D) |
FAM72D (G82V) |
MKI67IP (V228M) |
---|---|---|---|
II4 | + | + | + |
III1 | + | - | - |
III3 | + | + | + |
III5 | + | + | + |
III7 | + | + | + |
III9 | - | + | + |
IV1 | + | + | + |
IV2 | - | + | - |
IV3 | - | - | + |
IV4 | - | + | + |
IV5 | + | + | + |
IV6 | + | + | + |
IV7 | - | + | + |
IV9 | - | + | + |