GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
PDS (SLC26A4) DFNB4   IVS2-2A>G   Italian (1) Lopez-Bigas 2001
    T132I 395C>T   Italian (1) Lopez-Bigas 2001
    G209V 626G>T exon 6 Caucasian (1) Usami 1999
      Found in Pendred by Van-Huawe 1998  
    L236P 707T>C exon 6 American (1) Scott 2000
    X308/wt 917delT exon 7 Japanese (1) Usami 1999
    K369E 1105A>G exon 9 Japanese (1) Usami 1999
    A372V 1115C>T exon 9 Japanese (1) Usami 1999
    T410M 1229C>T exon 10 Italian (1) Lopez-Bigas 2001
      Found in Pendred by Coyle 1998  
    T416P/wt recessive?   American (1) Scott 2000
      Found in Pendred by Van-Huawe 1998    
    V480D 1440T>A exon 13 American (1) Scott 2000
      Found in Pendred by Van Hauwe 1998  
    I490L 1468A>C exon 13 Indian (1) Li 1998
    G497S 1489G>A exon 13 Indian (1) Li 1998
    V653A/wt recessive?   American (1) Scott 2000
      Found with CX26 35delG heterozygous  
      Found in Pendred by Campbell 2001    
    T721M 2162C>T exon 19 Japanese (1) Usami 1999
      Found in Pendred by Lopez-Bigas 2001  
    X722 2111insGCTGC exon 19 Japanese (1) Usami 1999
    H723R 2168A>G exon 19 Japanese (3); Japanese (1) Usami 1999; Ishinaga 2002
      Found in Pendred by Van-Huawe 1998  
             
  Pendred Syndrome E29Q 85G>C exon 2 N/A (1) Campbell 2001
    X96 279delT exon 3 Brazilian (1) Kopp 1999
    Y105C 314A>G exon 4 N/A (1) Campbell 2001
    A106D 317C>A exon 4 N/A (1) Campbell 2001
    X180 336-337insT exon 4 N/A (1) Coyle 1998
    FS135 406del5 exon 4 Spanish (1) Lopez-Bigas 2001
    V138F 412G>T exon 4 Belgian (1); N/A (1); N/A (1) Van-Huawe 1998; Coyle 1998; Cambpell 2001
    X141 IVS4+7A>G exon 4 Spanish (1) Lopez-Bigas 1999
    G139A 416G>C exon 5 Dutch (1) Van-Huawe 1998
    T193I 580C>T exon 5 Middle Eastern (1) Adato 2000
    G209V 626G>T exon 6 Belgian (1); N/A (2) Van-Huawe 1998; Campbell 2001
    L236P 707T>C exon 6 Dutch (4), American (1), Danish (1), Belgian (1); N/A (10); N/A (1) Van-Huawe 1998; Coyle 1998; Campbell 2001
      Found in DFNB4 by Scott 2000  
    X286 753delCTCT exon 6 N/A (1) Coyle 1998
    X286 783-784insT exon 7 N/A (1) Campbell 2001
    D271H 811G>C exon 7 Turkish (1) Van-Huawe 1998
    918+1G>A IVS7+1G>A intron 7 Indian (1) Van-Huawe 1998
      IVS7-2A>G intron 7 Turkish (1) Couke 1999
    1001+1G>A IVS8+1G>A intron 8 N/A (9); Italian (1); N/A (7) Coyle 1998; Bogazzi 2000; Campbell 2001
    F335L 1003T>C exon 9 N/A (1) Campbell 2001
    FS383 1149delC exon 9 Dutch (1) Van-Huawe 1998
    E384G 1151A>G exon 10 N/A (6) Coyle 1998
    FS400, X431 1197delT exon 10 Arabic (1); Lebanon (1) Italian (1); Spanish (1) Everett 1997; Van-Hauwe 1998, Fugazzola 2000; Lopez-Bigas 2001
    R409H 1226G>A exon 10 Turkish (1); N/A (1) Van-Huawe 1998, Coyle 1998
    T410M 1229C>T exon 10 N/A (1) Coyle 1998
      Found in DFNB4 by Lopez-Bigas 2001  
    T416P 1246A>C exon 10 Dutch (4), Danish (1); N/A (7); N/A (5) Van-Huawe 1998; Coyle 1998; Campbell 2001
      Found in DFNB4 by Scott 2000  
    A429del 1284delTGC exon 11 N/A (1) Coyle 1998
    L445W 1334T>G exon 11 Dutch (1); Turkish (1); Southern Tunisian (2); Italian (1) Van-Huawe 1998; Couke 1999; Masmoudi 2000; Lopez-Bigas 2001
    X454 1341delG exon 12 Arabic (1) Everett 1997
    X467 1334insAGTC exon 12 N/A (1) Coyle 1998
    V480D 1440T>A exon 13 N/A (1) Campbell 2001
    T508N 1523C>A exon 13 Italian (1) Bogazzi 2000
    X524 1536delAG exon 13 N/A (1) Coyle 1998
    Y530H 1588T>C exon 14 N/A (1); N/A (2) Coyle 1998; Campbell 2001
    Y556C 1667A>G exon 15 N/A (1) Coyle 1998
    Y556H 1666T>C exon 15 Italian (1) Lopez-Bigas 2001
    C565Y 1918G>A exon 15 American (1) Van-Huawe 1998
    L597S 1790T>C exon 16 N/A (3) Campbell 2001
    S610X     Japanese (1) Kiyomizu 2002
    FS634 1898del A exon 17 Belgian (1) Van-Huawe 1998
    V653A 1958T>C exon 17 N/A (1) Campbell 2001
      Found in DFNB4 by Scott 2000  
    S657N   exon 17 Japanese (1) Kiyomizu 2002
    F667C 2000T>G exon 17 Arabic (1) Everett 1997
    G672E 2015G>T exon 17 N/A (1); N/A (2) Coyle 1998; Campbell 2001
    X719 2127delT exon 19 N/A (1) Coyle 1998
    T721M 2162C>T exon 19 Italian (2) Lopez-Bigas 2001
      Homozygote had hypothyroidsim, but not goiter  
      Found in DFNB4 by Usami 1999  
    H723R 2168A>G exon 19 Dutch (1); Japanese (1) Van-Huawe 1998; Ishinaga 2002
      Found in DFNB4 by Usami 1999  
    Y728X 2182insG exon 19 Italian (1) Fugazzola 2000
    X781W 2343A>G   Italian (1) Lopez-Bigas 2001