Table 4. WFS1 mutations in each patient with WFS.
| Family | Mutationgroup | Exon | Nucleotidechanges | Amino acidchange | Type ofmutation | Firstdescription |
| W1 | 1 | 7 | 796C>T | Q266X | Nonsense | Novel |
| W2 | 1 | 8 | 1032–1033ins9 | Ins344AFF | In-frame Insertion | Inukai et al.[2005] |
| W3 | 1 | 8 | 1109–1110ins5 | Ins371fs/ter443 | Frameshift | Nakamura et al.[2006] |
| W4 | 1 | 8 | 1228del(C) | Del409fs/ter440 | Frameshift | Novel |
| W5 | 1 | 8 | 1401–1403del(GCT),1525–1539del15 | L468X,Del509VYLLY | Nonsense+In-framedeletion | Fujimaki et al.[2011]+Chaussenot et al.[2011] |
| W6a | 1 | 8 | 1515–1530del15 | Del508YVYLL | In-frame deletion | Inoue et al.[1998] |
| W6b | 1 | 8 | 1515–1530del15 | Del508YVYLL | In-frame deletion | Inoue et al.[1998] |
| W6c | 1 | 8 | 1515–1530del15 | Del508YVYLL | In-frame deletion | Inoue et al.[1998] |
| W6d | 1 | 8 | 1515–1530del15 | Del508YVYLL | In-frame deletion | Inoue et al.[1998] |
| W7a | 1 | 8 | 1956C>A | Y652X | Nonsense | Novel |
| W7b | 1 | 8 | 1956C>A | Y652X | Nonsense | Novel |
| W8 | 1 | 8 | 2484ins(GA), 2510G>A | Ins828fs/ter862,W837X | Frameshift+Nonsense | Novel+Novel |
| W9a | 1 | 8 | 2642del(TC) | Del882fs/ter937 | Frameshift | Inoue et al.[1998] |
| W9b | 1 | 8 | 2642del(TC) | Del882fs/ter937 | Frameshift | Inoue et al.[1998] |
| W9c | 1 | 8 | 2642del(TC) | Del882fs/ter937 | Frameshift | Inoue et al.[1998] |
| W10a | 3 | 5,8 | 577–579del(AAG),1949–1950del(AT) | Del193K,Del650fs/ter710 | Deletion+Frameshift | Novel+Domenech et al.[2004] Chaussenot et ai.[2011] |
| W10b | 3 | 5,8 | 577–579del(AAG),1949–1950del(AT) | Del193K,Del650fs/ter710 | Deletion+Frameshift | Novel+Domenech et al.[2004] Chaussenot et ai.[2011] |
| W11 | 3 | 5,8 | 563A>G,1359del(C) | N188S,Del453fs/ter475 | Missense+Frameshift | Novel+Novel |
| W12 | 2 | 5 | 577–579del(AAG) | Del193K | Deletion | Novel |
| W13 | 2 | 7,8 | 743T>G, 2020G>A | V248G,G674R | Missense+Missense | Novel+Gomez-Zaera et ai.[1999] Khanim et al.[2001] |
| W14 | 2 | 8 | 908T>C,1254ins(TCT) | L303P,Ins419L | Missense+In-frameInsertion | Novel+Novel |
| W15 | 2 | 8 | 1280T>A | I427N | Missense | Novel |
| W16 | 2 | 8 | 1295T>G,1552A>G | L432R,M518V | Missense+Missense | Novel+Novel |
| W17a | 2 | 8 | 2171C>T | P724L | Missense | Inoue et al.[1998] |
| W17b | 2 | 8 | 2171C>T | P724L | Missense | Inoue et al.[1998] |
| W17c | 2 | 8 | 2171C>T | P724L | Missense | Inoue et al.[1998] |
| W18 | 2 | 8 | 2207G>A | G736D | Missense | Novel |
| W19§ | N/A | 8 | 1228del(C) | Del409fs/ter440(hetero) | Frameshift | Novel |
| W20§ | N/A | 8 | 2425G>A | E809K(hetero) | Missense | Novel |
*Novel mutations are indicated in boldface.
§
Individual with detectable WFS1 mutation in single chromosome.