Table 2. Clinical characteristics and family history of each patient screened for WFS1 mutations.
| No. | Family | Sex | FH ofWFS | WFS1mutation | DM | OA | DI | D | Renal | Neuro | Psychiatric |
| 1 | W1 | M | Y□ | Y | 3 | 4 | − | 6 | − | − | − |
| 2 | W2 | F | N | Y | 9 | 32 | 32 | 41 | 41 | + | N/A |
| 3 | W3 | M | Y□ | Y | 6 | 11 | 47 | 19 | 47 | − | − |
| 4 | W4 | M | Y□ | Y | 4 | 12 | − | − | − | 12 (Dysarthria, Clumsiness) | − |
| 5 | W5 | F | N | Y | 7 | 10 | 7 | 17 | 20 | 43 (Brain atrophy, Dizziness) | Attempted suicide, Self injury |
| 6 | W6a | M | Y□ | Y | 5 | 9 | 12 | 12 | 11 | 26 (Brain atrophy) | − |
| 7 | W6b | M | Y□ | Y | 3 | 7 | 19 | 10 | 10 | 24 (Brain atrophy) | Depression |
| 8 | W6c | F | Y□ | Y | 4 | 6 | 11 | 7 | 7 | 18 (Brain atrophy) | Depression |
| 9 | W6d | F | Y□ | Y | 5 | 7 | 8 | 5 | 5 | 15 (Brain atrophy) | − |
| 10 | W7a | M | Y□ | Y | 5 | 9 | 4 | 5 | N/A | N/A | 5(ADHD) |
| 11 | W7b | M | Y□ | Y | 3 | 10 | 3 | 3 | N/A | N/A | 3(ADHD) |
| 12 | W8 | M | N | Y | 3 | 7 | − | 5 | 0 | − | − |
| 13 | W9a | M | Y□ | Y | 3 | 5 | + | + | + | 16 (Brain atrophy) | Depression |
| 14 | W9b | M | Y□ | Y | 1.5 | 5 | + | + | + | 16 (Brain atrophy) | Depression |
| 15 | W9c | M | Y□ | Y | 5 | + | N/A | + | N/A | N/A | N/A |
| 16 | W10a | F | Y | Y | 17 | 18 | − | − | − | N/A | Mental retardation |
| 17 | W10b | F | Y | Y | 10 | 22 | − | + | − | 38 (Brain atrophy) | Depression |
| 18 | W11 | F | N | Y | 4 | 9 | + | 9 | + | − | − |
| 19 | W12 | M | N | Y | 27 | 35 | − | 58 | 42 | 53 (Brain atrophy) | − |
| 20 | W13 | F | N | Y | 13 | 10 | − | − | − | − | − |
| 21 | W14 | F | N | Y | 10 | 5 | − | − | − | 29 (Brain atrophy) | − |
| 22 | W15 | F | N | Y | 3 | + | 7 | 8 | 7 | N/A | N/A |
| 23 | W16 | F | N | Y | 7 | 18 | − | − | 27 | 30 (Brain atrophy) | − |
| 24 | W17a | F | Y□ | Y | 23 | 14 | − | − | + | 27 (Brain atrophy, Nystagmus) | Mental retardation |
| 25 | W17b | F | Y□ | Y | 27 | <29 | − | − | 25 | 29 (Brain atrophy, Nystagmus) | Mental retardation |
| 26 | W17c | F | Y□ | Y | 10 | <30 | − | − | + | 30 (Brain atrophy, Nystagmus) | Mental retardation |
| 27 | W18 | M | Y□ | Y | 1 | <39 | 39 | N/A | N/A | N/A | N/A |
| 28 | W19 | M | N | Y§ | 3 | 26 | − | − | − | − | − |
| 29 | W20 | F | N | Y§ | 2 | 14 | − | <41 | − | N/A | Mental retardation |
| 30 | W21 | M | N | N | 30 | 40 | − | 0 | − | − | − |
| 31 | W22 | F | N | N | 11 | 12 | − | − | − | − | Mental retardation |
| 32 | W23 | F | N | N | 10 | 21 | − | − | − | − | <22 (Depression, Self injury) |
| 33 | W24 | F | N | N | + | + | N/A | + | N/A | N/A | N/A |
| 34 | W25 | F | N | N | <22 | <22 | <22 | N/A | N/A | N/A | N/A |
| 35 | W26 | M | Y□ | N | 0(9 M) | 7 | − | 0(9 M) | − | Spastic paraplegia | Mental retardation |
| 36 | W27a | M | Y | N | 3 | <3 | − | <3 | − | Nystagmus | Mental retardation |
| 37 | W27b | M | Y | N | 7 | <7 | − | <11 | − | − | − |
| 38 | W28 | F | N | N | 10 | <27 | − | − | − | − | − |
| 39 | W29 | F | N | N | 10 | <29 | − | − | − | − | − |
| 40 | W30 | F | N | N | 12 | 12 | − | + | − | − | − |
*M, male; F, female; DM, diabetes mellitus; OA, optic atrophy; D, deafness; DI, diabetes insipidus, numbers indicate age at onset in years; +, symptomatic with unknown onset age; −, asymptomatic, Y; Yes, N; No, N/A; not applicable, □; consanguineous marriage and affected siblings.
§
Individual with detectable WFS1 mutation in single chromosome.