GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
EYA1 Brachiooto Syndrome 99 297delCCGTACGG exon 4 N/A (1) Vincent 1997
    292 870insGT exon 9 N/A (1) Vincent 1997
             
  Brachiootorenal Syndrome 130 387insT exon 5 N/A (1) Rickard 2000
    Y244X 732C>A exon 8 N/A (1) Rickard 2000
      755insC exon 8 N/A (1) Abdelhak 1997a
    R261X 781C>T exon 8 Caucasian (1) Kumar 1998
    R265X 790C>T exon 8 N/A (2) Rickard 2000
    R275X 823C>T exon 8 N/A (1) Abdelhak 1997a
      IVS8-1G>A   N/A (1) Rickard 2000
      del 5.6 kb in8-ex9 N/A (1) Abdelhak 1997b
      insAlu seq. exon 10 N/A (1) Abdelhak 1997b
      IVS10+1G>T   N/A (1) Rickard 2000
      del 5.8-7 kb exon 11-15 N/A (1) Abdelhak 1997a
      del 20-37 kb exon 11-16 N/A (1) Abdelhak 1997b
      1042 inv. 23bp exon 11 N/A (1) Rickard 2000
    416 1251delTinsCC exon 12 N/A (1) Abdelhak 1997a
    G393S 1325G>A exon 12 Japanese (1) Azuma 2000
    R407Q G>A exon 12 N/A (1) Kumar 1997
      1359insC exon 13 N/A (1) Abdelhak 1997a
    S454P 1360T>C exon 13 N/A (1); N/A (1) Abdelhak 1997b; Kumar 1997
    457 1372delTinsAGAGC exon 13 N/A (1); N/A (1) Abdelhak 1997a; Rickard 2000
      IVS14+2T>G   N/A (1); N/A (1) Abdelhak 1997a; Rickard 2000
    L472R 1414T>G exon 14 N/A (1) Abdelhak 1997b
    503 1501delAAAG exon 15 Caucasian (1) Kumar 1998
      1555insTTGT exon 15 N/A (1) Abdelhak 1997a
    530 1592delC exon 15 Caucasian (1) Kumar 1998
      IVS15+5G>C   N/A (1) Abdelhak 1997b
    L549P 1649T>C exon 16 N/A (1) Rickard 2000
    X559Y 1680A>C exon 16 N/A (1) Rickard 2000
             
  Iris Anomaly E330K 1136G>A exon 10 Japansese (1) Azuma 2000
             
  Peters' anomaly with cataracts R514G 1688A>G exon 15 Japanese (1) Azuma 2000