Table 1 Clinical characteristics of the proband’s family
From: A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy
The proband | Father | Mother | Grandmother | |
|---|---|---|---|---|
Age | 12 | 46 | 44 | 65 |
Type 2 DM | − | − | − | + |
Hearing loss | None | None | None | + (congenital) |
Optic atrophy | + | − | − | − |
Bilateral Cataract | + (congenital) | − | − | + (onset at 6 years) |
WFS1 gene mutation | c.1230_1233delCTCT | c.1230_1233delCTCT | − | c.1230_1233delCTCT |