Table 3

WFS1 mutations in patients with WSD

Mutation groupAge at WSD onset (years)ExonNucleotide changeAmino acid changeType of mutationFirst description
0.68 + intron 3c.1367G>A+c.316–37C>Tp.R456H+3′splice*Missense + unknownAwata 2000 + novel
318c.937C>Tp.H313YMissenseHansen 2005
118c.1362_1377del16p.Y454fsFrameshiftColosimo 2003
31.18c.1885C>Tp.R629WMissenseKadayifci 2002
11.38c.1619G>Ap.W540XNonsenseNovel
11.57c.740_741delTTp.F247fsFrameshiftNovel
11.78c.1096C>Tp.Q366XNonsenseStrom 1998
11.84 + 8c.409_424dup+c.1193_1243dupp.V142X+p.V415fsNonsense + frameshiftNovel + novel
127c.740_741delTTp.F247fsFrameshiftNovel
22.67 + 8c.740_741delTT+c.2048T>Gp.F247fs+p.M683RFrameshift + missenseNovel + novel
33.18c.1243_1245delGTCp.V415delIn-frame deletionHardy 1999
13.38c.1919_1929delp.L640fsDeletionNovel
13.48c.1362_1377del16p.Y454fsFrameshiftColosimo 2003
23.75 + 8c.599delT+c.2006A>Gp.L200fs+p.Y669CFrameshift + missenseStrom T 1998
33.88c.1943G>A+c.2336T>Gp.W648X+p.V779GNonsense + missenseInoue 1998 + novel
13.88c.1362_1377del16p.Y454fsFrameshiftColosimo 2003
248c.1251_1252delinsG+c.1973delAp.F417fs+p.K658fsFrameshiftNovel + novel
14.18c.1362_1377del16p.Y454fsFrameshiftColosimo 2003
14.28c.1775_1776insGGATp.E593fsFrameshiftNovel
14.38c.1919_1929delp.L640fsDeletionNovel
14.35c.599delTp.L200fsFrameshiftNovel
24.38c.1380_1388del 9p.T461_463delIn-frame deletionStrom 1998
14.88c.1362_1377del16p.Y454fsFrameshiftColosimo 2003
24.98c.1997G>Ap.W666XNonsenseHong 2009
15.18c.1838G>Ap.W613XNonsenseSmith 2003
15.38c.1362_1377del16p.Y454fsFrameshiftColosimo 2003
25.58c.1380_1388del 9p.T461_463delIn-frame deletionStrom 1998
68 + intron 4c.1228delCTCT+c.461–8T>Cp.L410fs+3′splice*Frameshift + unknownColosimo 2003 + novel
168c.1362_1377del16p.Y454fsFrameshiftColosimo 2003
168c.1096C>Tp.Q366XNonsenseStrom 1998
16.5Intron 4c.460+1G>A5′spliceSpliceStrom 1998
37.58c.1973delA+c.1289C>T+c.1367G>Ap.K658fs+p.S430 L+p.R456 HFrameshift + missense + missenseNovel + novel + Awata 2000
37.88c.2206G>A+c.1380_1388del9p.G736S+p.T461_463delMissense + in-frame deletionHardy 1999; Strom 1998
28.58c.1943G>Ap.W648XNonsenseInoue 1998
28.98c.2164_2165ins24p.M722fsFrameshiftStrom 1998
29.88 + 4c.2648_2651delTCTT+c.409_424dup16p.F883fs+p.V142fsFrameshift + frameshiftHardy 1999; Gomez 2001
3108c 2051C>Tp.A684VMissenseTessa 2001
3168c.1367G>A+c.1885C>T+c.2648_2651delTCTTp.R456H+p.R629W + p.F883fsMissense + missense + frameshiftAwata 2000; Kadayifci 2000; Hardy 1999
317.38c.2385 G>C+c.2390 A>Tp.E795D+p.D797VMissense + missenseNovel + novel
  • Novel mutations are indicated in boldface.

  • *Putative splice mutation, not experimentally examined.

  • †Variant associated with type 1 diabetes and type 2 diabetes.

  • ‡Individual with only one detectable WFS1 mutation.