Skip to main content

Table 2 WFS clinical characteristics and WFS 1 clinical mutations

From: Selective cognitive and psychiatric manifestations in Wolfram Syndrome

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
  1. DM diabetes mellitus, OA optic atrophy, No dx No diagnosis in 2013