Table 2 of
Zhang, Mol Vis 2007;
13:1375-1378.Table 2 of
Zhang, Mol Vis 2007;
13:1375-1378.
Table 2. FERM domain containing 7 mutations detected in Chinese patients with congenital motor nystagmus
The hemizygous mutation was present in male patients while the heterozygous mutation was present in unaffected obligate female carriers. The asterisk indicates that we were unable to observe the fundus due to senile cataracts.
FRMD7 mutation detected
--------------------------- Visual acuity
Family ID# Sex Age DNA Protein Status Exon CMN OD; OS Fundus
------ ----- --- --- ------------- ----------- ------------ ---- --- ------------- ------
A II:1 F 75 c.41_43delAGA p.Lys14del Heterozygous 1 No 0.6; 0.8 Normal
II:3 F 83 Normal No HM; HM N/A*
III:1 F 53 c.41_43delAGA p.Lys14del Heterozygous 1 No 0.9; 0.8 Normal
III:2 M 52 Normal No 0.8; 1.0 Normal
III:3 F 48 c.41_43delAGA p.Lys14del Heterozygous 1 No 1.2; 1.2 Normal
III:5 M 40 Normal No 1.0; 1.0 Normal
III:6 M 32 c.41_43delAGA p.Lys14del Hemizygous 1 Yes 0.5; 0.5 Normal
IV:1 F 30 c.41_43delAGA p.Lys14del Heterozygous 1 No 1.0; 1.0 Normal
IV:2 M 33 Normal No 1.0; 1.0 Normal
IV:3 M 27 c.41_43delAGA p.Lys14del Hemizygous 1 Yes 0.9; 0.9 Normal
IV:4 M 25 c.41_43delAGA p.Lys14del Hemizygous 1 Yes 1.0; 0.9 Normal
IV:5 M 14 c.41_43delAGA p.Lys14del Hemizygous 1 Yes 0.8; 0.8 Normal
V:1 M 5 c.41_43delAGA p.Lys14del Hemizygous 1 Yes 0.3; 0.4 Normal
V:2 M 5 c.41_43delAGA p.Lys14del Hemizygous 1 Yes 0.4; 0.4 Normal
B II:1 M 28 Normal No N/A N/A
II:2 F 27 c.70G>A p.Gly24Arg Heterozygous 2 No 1.0; 1.0 Normal
III:1 M 4 c.70G>A p.Gly24Arg Hemizygous 2 Yes 0.3; 0.2 Normal
C II:1 M 10 c.436C>T p.Arg146Trp Hemizygous 6 Yes 0.1; 0.1 Normal
D II:1 M 5 c.685C>T p.Arg229Cys Hemizygous 8 Yes 0.3; 0.3 Normal
|