GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
SOX10 Waardenburg IV   168delG exon 3 Chinese (1) Sham 2001
    Y83X 249C>A exon 3 N/A (1) Pingault 1998
    161 482ins6(GCTCCG) exon 4 N/A (1) Pingault 1998
    E189X 565G>T exon 4 N/A (1) Pingault 1998
    Y207X   exon 4 N/A (1) Southard-Smith 1999
    S251X 752C>A exon 5 French (1) Touraine 2000
    Y313X 939C>A exon 5 German (1), French (1) Touraine 2000
    X at 400 1076delGA exon 5 N/A (1) Pingault 1998
    Q377X N/A exon 5 N/A (1) Southard-Smith 1999
    X467C 1400del12 exon 5 Japanese (1) Inoue 1999*
      *+severe leukodystrophy and demyelinating neuropathy      
    X467K T>A exon 5 Chinese (1) Sham 2001
    N/A N/A N/A N/A Tomiyama 2001
             
  Peripheral nueropathy with hypomyelination +deafness 265 795delG exon 5 N/A (1) Pingault 2000
             
  Yemenite Deaf-Blind Hypopigmentation (Mild) S135T G>C exon 3 Yeminite? (1) Bondurand 1999