TABLE 2..WFS1Mutations inWolframSyndrome Patients


Type of mutation Protein domain Protein change Nucleotide changea Reference


Non-inactivating


EC1 A126T c.376G>AGomez-Zaera et al. [2001]



EC1 A133T c.397G>AKhanim et al. [2001]



EC1 E169K c.505G>AHardy et al. [1999]



EC1 D211N c.631G>AVan denOuweland et al. [2003]; Sivakumaran andLe sperance (unpublishedr esults)



EC1 P292S c.874C>THardy et al. [1999]



EC1 I296S c.887T>GHardy et al. [1999]



IC1 F350de c.1046_1048delTCTGomez-Zaera et al. [2001]



TM2 F354de c.1060_1062delTTCHardy et al. [1999];Gomez-Zaera et al. [2001]



TM3 F414de c.1240_1242delTTCYoung (unpublished results)



TM3 V415de c.1243_1245delGTCHardy et al. [1999]



TM4 G437R c.1309G>CHardy et al. [1999]



TM4 S443I c.1328G>TTessa et al. [2001]



TM5 P504L c.1511C>TInoue et al. [1998];Gomez-Zaera et al. [2001]; Wuyts, personal communication



TM5 C505Y c.1514G>AColosimoetal.[2003]


IC3 F516el c.1546_1548delTTCColosimo et al. [2003]



TM6 W540el c.1620_1622delGTGColosimo et al. [2003]



TM6 L543R c.1628T>GColosimoetal.[2003]



TM6 V546D c.1637T>AColosimoetal.[2003]


EC4 R558H c.1673G>AColosimoetal.[2003]



TM8 V606L c.1816G>CColosimoetal.[2003]



TM8 P607R c.1820C>GVan denOuweland et al. [2003]



EC5 R629W c.1885C>TKadayifci et al. [2002]


IC5 Y669C c.2006A>GStromet al. [1998]


IC5 A684Vb c.2051C>TTessa et al. [2001]


IC5 C690R c.2068T>CHardy et al. [1999]


IC5 G695V c.2084G>TInoue et al. [1998]


IC5 W700C c.2100G>THardy et al. [1999]


IC5 R708Cb c.2122C>TTessa et al. [2001]


IC5 E717K c.2149G>AWuyts, personal communication


IC5 P724L c.2171C>TInoue et al. [1998]


IC5 G736S c.2206G>AHardy et al. [1999]


IC5 G780R c.2338G>CGomez-Zaera et al. [2001]


IC5 R793P c.2378G>CColosimoetal.[2003]


IC5 R818Cc,d c.2452C>TGomez-Zaera et al. [2001];Torres et al. [2001]c; Cryns et al. [2002]d; Martorell et al. [2003]c


IC5 P885L c.2654C>THardy et al. [1999] Inactivating


EC1 Q136X c.406C>THardy et al. [1999]


EC1 K178_A179de c.532_537del6Colosimo et al. [2003]


EC1 L200fsX286 c.599delTStromet al. [1998]


EC1 Q224X c.670C>TKhanim et al. [2001]


EC1 Q226X c.676C>TStromet al. [1998]


EC1 E273X c.817G>THardy et al. [1999]


EC1 Y302X c.906C>AHardy et al. [1999]


IC1 L347fsX396 c.1038_1039insCEller et al. [2001]


TM2 Q366X c.1096C>TStromet al. [1998]


EC2 W371X c.1112G>AColosimoetal.[2003]


TM3 V412fsX440e c.1230_1233delCTCTTessa et al. [2001]e; Colosimo et al. [2003]; Van denOuweland et al. [2003]


EC3 Y454Xf c.1362_1377del16Tessa et al. [2001]f;Colosimo et al. [2003]


EC3 T461_V463de c.1380_1388del9Stromet al. [1998]


EC3 W478X c.1433G>AHardy et al. [1999]


EC3 Q486X c.1456C>TColosimoetal.[2003]


TM5 Y508_L512de c.1522_1536del15Van denOuweland et al. [2003]


TM5 Y508fsX541 c.1523_1524delATStromet al. [1998]; Colosimo et al. [2003]


TM5 V509fsX517 c.1525_1537del13Van denOuweland et al. [2003]


IC3 R517fsX521 c.1549delCHardy et al. [1999]


IC3 Q520X c.1558C>TStromet al. [1998];Gomez-Zaera et al. [2001]


IC3 Y528fsX542 c.1581_1582insCVan denOuweland et al. [2003]


IC3 Y528X c.1584C>GColosimoetal.[2003]


TM6 Y534X c.1602C>GColosimoetal.[2003]


TM6 C537X c.1611_1624del14Hardy et al. [1999]


TM7 L567_F568de c.1699_1704del6Hardy et al. [1999]


EC5 W613X c.1839G>ASivakumaran andLe sperance (unpublishedresults)


TM9 W648X c.1944G>AInoue et al. [1998]; Hardy et al. [1999]


IC5 Q667X c.1999C>THardy et al. [1999]; Pennings et al. (in press)


IC5 Q668X c.2002C>THardy et al. [1999]


IC5 N721_M722dup8aag c.2164_2165dup24 Stromet al. [1998]g; Colosimo et al. [2003]


IC5 E752X c.2254G>THardy et al. [1999]


IC5 C755fsX757 c.2262_2263delCTKhanim et al. [2001]


IC5 Y773fsX776 c.2315_2316insTEller et al. [2001]


IC5 V798decx1nsGL c.2392insGACColosimo et al. [2003]


IC5 S812fsX861 c.2433delAHardy et al. [1999]


IC5 Q819X c.2455C>TStromet al. [1998]


IC5 K836fsX939 c.2504_2505insCColosimo et al. [2003]


IC5 D880_F881el c.2638_2643del6Eller et al. [2001]


IC5 F883fsX938 c.2642_2643delTCInoue et al. [1998]


IC5 F883fsX950 c.2648_2651delTCTTHardy et al. [1999]; Samet al. [2001]


Splice site IVS4+1G>AStromet al. [1998];Van denOuweland et al. [2003]


WFS1MUTATIONAL SPECTRUM 279





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