GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
EDNRB Hirschsprung Disease   -26G>A 5' UTR N/A (1); N/A (1); Japanese (2) Amiel 1996; Sakai 1999*; Sakai 2000
      *RET mutation also found, Trisomy 21      
    G57S G>A exon 1 N/A (1); N/A (3); N/A (1); N/A (3) Amiel 1996; Hofstra 1996*; Svensson 1998~; Svensson 1999*
      *Mutation was also found in some controls, ~RET mutation also found      
    N104I 311A>T exon 1 Japanese (1); Japanese (1) Innoue 1998*; Tanaka 1998*
      *Mutation was also found in some controls      
    C109R 325T>C exon 1 Japanese (1); Swedish (1) Tanaka 1998; Svensson 1999
    W226C G>T exon 3 Swedish (2) Svensson 1999
      IVS3+2T>C   Japanese (1) Inoue 1998
    W275X 824G>A exon 4 N/A (1) Kusafuka 1996, 1997
    W276C G>T   Mennonite (1) Puffenberger 1994
      878insT exon 4 N/A (1) Kusafuka 1996, 1997
    A301T 1164G>A exon 4 Japanese (1) Sakai 2000
    S305N 914G>A exon 4 Italian (1); Moroccan (1) Auricchio 1996; Brooks 1999*
      *Denoted as Goldberg + Shprintzen. Mutation was also found in some controls.      
    R319W C>T exon 5 N/A (1) Amiel 1996
    M374I G>A exon 6 N/A (1) Hofstra 1996
    P383L C>T exon 6 N/A (1) Amiel 1996
    S390R 1170C>A exon 6 Japanese (1) Tanaka 1998
    N378I delA exon 6 Italian (1) Auricchio 1996
             
  Waardenburg IV A183G 548C>G exon 2 Tunisian (1) Attie 1995
    G186R G>A exon2 Somali (1) Boardman 2001*
      *Trisomy 21      
    R201X C>T exon 3 Kurdish (1) Verheij 2002*
      *Denoted as ABCD syndrome      
    R253X C>T exon 3 Afro Carribbean (1) Syrris 1999