Table 1 Genotypes and phenotypes of this Chinese family
From: A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
Patient ID | Sex/Age | Nystagmus | BCBVA(A/C) | Strabismus | C/Dratio (OD/OS) | DM/DD (OD/OS) | Type | AHP | Affected |
|---|---|---|---|---|---|---|---|---|---|
III:1 | M/41 | N | N/0 | N | NA | NA | - | N | No |
III:2 | F/40 | N | N/0 | N | NA | NA | Heterozygous | N | No |
III:3 | F/35 | N | N/0 | N | NA | NA | - | N | No |
III:4 | M/37 | PPFS | 0.2/0.4 | N | 0.50/0.58 | 3.91/3.75 | Hemizygous | TR10 | Yes |
III:5 | F/36 | N | N/0 | N | NA | NA | Heterozygous | N | No |
III:6 | M/38 | N | N/0 | N | NA | NA | - | N | No |
IV:1 | M/10 | Bdj | 0.4/0.4 | N | 0.27/0.36 | 2.45/2.17 | Hemizygous | N | Yes |
IV:2 | F/6 | Bdj | 0.2/0.3 | N | 0.28/0.31 | 2.73/2.50 | Heterozygous | TL30 | Yes |
IV:3 | F/10 | Bdj | 0.2/0.3 | N | 0.16/0.33 | 2.46/2.05 | Heterozygous | CU25 | Yes |
IV:4 | M/7 | N | N/0 | N | NA | NA | - | N | No |
IV:5 | M/12 | J,jef,bdj | 0.3/0.4 | N | 0.5/0.42 | 1.53/1.87 | Hemizygous | TR15 | Yes |
IV:6 | M/7 | Bdj | 0.2/0.4 | N | 0.38/0.33 | 2.88/2.22 | Hemizygous | CU20 | Yes |
IV:7 | F/6 | N | N/0 | N | NA | NA | - | NA | No |