Table 2.
WFS clinical characteristics and WFS 1 clinical mutations
| Age of DM onset | Age of OA diagnosis | WFS mutation allele 1 | WFS mutation allele 2 |
|---|---|---|---|
| 2 | 12 | c.1112G>A; p.W371X | c.1885C>T; p.R629W |
| 3 | 7 | c.439delC, p.R147fsX163 | c.1620G>A, p.W540X |
| 3 | 8 | c.1230_1233delCTCT, p.Val412fsX440 | c.1243_1245delGTC, p.Val415del |
| 3 | 7 | c.2002C>T; p.Q668X | c.2002C>T; p.Q668X |
| 4 | 10 | c.739_740delTT, p.Phe247fsX251 | c.1243_1245delGTC, p.Val415del |
| 5 | 10 | c.1251_1252delCTinsG; p.Phe417Leufsx25 | c.1885C>T; p.Arg629Trp |
| 5 | 17 | c.739_740delTT, p.F247Cfs*5 | c.1243_1245delGTC,p.V415del |
| 5 | 15 | c.599 T>C; p.L200P | c.695G>C; p.R232P |
| 5 | 5 | c.599delT; p.L200fs286Stop | c.2254G>T; pE752Stop |
| 5 | 6 | c.1230_1233delCTCT; p.Val412fs440Stop | c.1243_1245delGTC: p.Val415del |
| 5 | No dx | c.739_740delTT, p.F247Cfs*5 | c.1243_1245delGTC,p.V415del |
| 6 | 7 | c.817G>T; P.E273X | c.1839G>A; p.W613X |
| 6 | 9 | c.2648del4; p.F883fs | None identified |
| 7 | 7 | c.320G>A; p.G107E | c.1882C>T; p.R629W |
| 7 | 8 | c.376G>A; p.A126T | c.1838G>A;p.W613X |
| 7 | 7 | c.376G>A; p.A126T | c.1838G>A;p.W613X |
| 13 | 13 | c.1240_1242delTTC; p.F414del | c.1689_1694delCTTCCT; p.F564del;p.L565del |
| 14 | 12 | c.605A>G; p.E202G | c.631G>A; p.D211N |
| No dx | 5 | c.2339G>C, p.Gly780Ala | c.2452C>T, p.Arg818Cys |
DM diabetes mellitus, OA optic atrophy, No dx No diagnosis in 2013