TABLE 2..WFS1Mutations inWolframSyndrome Patients
Type of
mutation
Protein
domain
Protein
change
Nucleotide
changea Reference
Non-inactivating EC1 A126T c.376G>A Gomez-Zaera et al. [2001]
EC1 A133T c.397G>A Khanim et al. [2001]
EC1 E169K c.505G>A Hardy et al. [1999]
EC1 D211N c.631G>A Van denOuweland et al. [2003];
Sivakumaran andLe sperance
(unpublishedr esults)
EC1 P292S c.874C>T Hardy et al. [1999]
EC1 I296S c.887T>G Hardy et al. [1999]
IC1 F350del c.1046_1048delTCT Gomez-Zaera et al. [2001]
TM2 F354del c.1060_1062delTTC Hardy et al. [1999];Gomez-Zaera et al. [2001]
TM3 F414del c.1240_1242delTTC Young (unpublished results)
TM3 V415del c.1243_1245delGTC Hardy et al. [1999]
TM4 G437R c.1309G>C Hardy et al. [1999]
TM4 S443I c.1328G>T Tessa et al. [2001]
TM5 P504L c.1511C>T Inoue et al. [1998];Gomez-Zaera et al. [2001];
Wuyts, personal communication
TM5 C505Y c.1514G>A Colosimoetal.[2003]
IC3 F516del c.1546_1548delTTC Colosimo et al. [2003]
TM6 W540del c.1620_1622delGTG Colosimo et al. [2003]
TM6 L543R c.1628T>G Colosimoetal.[2003]
TM6 V546D c.1637T>A Colosimoetal.[2003]
EC4 R558H c.1673G>A Colosimoetal.[2003]
TM8 V606L c.1816G>C Colosimoetal.[2003]
TM8 P607R c.1820C>G Van denOuweland et al. [2003]
EC5 R629W c.1885C>T Kadayifci et al. [2002]
IC5 Y669C c.2006A>G Stromet al. [1998]
IC5 A684Vb c.2051C>T Tessa et al. [2001]
IC5 C690R c.2068T>C Hardy et al. [1999]
IC5 G695V c.2084G>T Inoue et al. [1998]
IC5 W700C c.2100G>T Hardy et al. [1999]
IC5 R708Cb c.2122C>T Tessa et al. [2001]
IC5 E717K c.2149G>A Wuyts, personal communication
IC5 P724L c.2171C>T Inoue et al. [1998]
IC5 G736S c.2206G>A Hardy et al. [1999]
IC5 G780R c.2338G>C Gomez-Zaera et al. [2001]
IC5 R793P c.2378G>C Colosimoetal.[2003]
IC5 R818Cc,d c.2452C>T Gomez-Zaera et al. [2001];Torres et al. [2001]c;
Cryns et al. [2002]d; Martorell et al. [2003]c
IC5 P885L c.2654C>T Hardy et al. [1999]
Inactivating EC1 Q136X c.406C>T Hardy et al. [1999]
EC1 V142fsX251 c.424_425ins16 Gomez-Zaera et al. [2001];
Pennings et al. (in press)
EC1 K178_A179del c.532_537del6 Colosimo et al. [2003]
EC1 L200fsX286 c.599delT Stromet al. [1998]
EC1 Q224X c.670C>T Khanim et al. [2001]
EC1 Q226X c.676C>T Stromet al. [1998]
EC1 E273X c.817G>T Hardy et al. [1999]
EC1 Y302X c.906C>A Hardy et al. [1999]
IC1 L347fsX396 c.1038_1039insC Eller et al. [2001]
TM2 Q366X c.1096C>T Stromet al. [1998]
EC2 W371X c.1112G>A Colosimoetal.[2003]
TM3 V412fsX440e c.1230_1233delCTCT Tessa et al. [2001]e; Colosimo et al. [2003];
Van denOuweland et al. [2003]
EC3 Y454Xf c.1362_1377del16 Tessa et al. [2001]f;Colosimo et al. [2003]
EC3 T461_V463del c.1380_1388del9 Stromet al. [1998]
EC3 W478X c.1433G>A Hardy et al. [1999]
EC3 L481fsX544 c.1440_1441ins7 Inoue et al. [1998]
EC3 Q486X c.1456C>T Colosimoetal.[2003]
TM5 ins8aa c.1504_1505ins24 Hardy et al. [1999]
TM5 Y508_L512del c.1522_1536del15 Van denOuweland et al. [2003]
TM5 Y508fsX541 c.1523_1524delAT Stromet al. [1998]; Colosimo et al. [2003]
TM5 V509fsX517 c.1525_1537del13 Van denOuweland et al. [2003]
IC3 R517fsX521 c.1549delC Hardy et al. [1999]
IC3 Q520X c.1558C>T Stromet al. [1998];Gomez-Zaera et al. [2001]
IC3 Y528fsX542 c.1581_1582insC Van denOuweland et al. [2003]
IC3 Y528X c.1584C>G Colosimoetal.[2003]
TM6 Y534X c.1602C>G Colosimoetal.[2003]
TM6 C537X c.1611_1624del14 Hardy et al. [1999]
TM7 L567_F568del c.1699_1704del6 Hardy et al. [1999]
EC5 W613X c.1839G>A Sivakumaran andLe sperance (unpublishedresults)
TM9 W648X c.194>G4A Inoue et al. [1998]; Hardy et al. [1999]
(continues on following page)
TABLE 2. Continued.
Type of
mutation
Protein
domain
Protein
change
Nucleotide
changea Reference
IC5 Q667X c.1999C>T Hardy et al. [1999]; Pennings et al. (in press)
IC5 Q668X c.2002C>T Hardy et al. [1999]
IC5 N721_M722dup8aag c.2164_2165dup24 Stromet al. [1998]g; Colosimo et al. [2003]
IC5 E752X c.2254G>T Hardy et al. [1999]
IC5 C755fsX757 c.2262_2263delCT Khanim et al. [2001]
IC5 Y773fsX776 c.2315_2316insT Eller et al. [2001]
IC5 V798delinsGL c.2392insGAC Colosimo et al. [2003]
IC5 S812fsX861 c.2433delA Hardy et al. [1999]
IC5 Q819X c.2455C>T Stromet al. [1998]
IC5 K836fsX939 c.2504_2505insC Colosimo et al. [2003]
IC5 D880_F881del c.2638_2643del6 Eller et al. [2001]
IC5 F883fsX938 c.2642_2643delTC Inoue et al. [1998]
IC5 F883fsX950 c.2648_2651delTCTT Hardy et al. [1999]; Samet al. [2001]
Splice site IVS4+1G>A Stromet al. [1998];Van denOuweland et al. [2003]
WFS1MUTATIONAL SPECTRUM 279