GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
MYO15 DFNB3   IVS4+1G>T   Pakistani (1) Liburd 2001
    N890Y 2668A>T exon 28 Indian (1) Wang 1998
    I892F 2674A>T exon 28 Bali (1) Wang 1998
    Q1229X 4023C>T exon 3 Pakistani (1) Liburd 2001
    K1300X 3898A>T exon 39 Indian (1) Wang 1998
    Q2716H 8486G>T exon 44 Pakistani (1) Liburd 2001
             
  Smith-Magenis T2205I 6952C>T* N/A Pakistani/Indian (1) Liburd 2001
      *hemizygous mutation