GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
POU3F4 DFN3   del1200kb   N/A (1) Arellano 2000
      del entire gene N/A (1) de Kok 1996
    Rearrangement   upstream N/A (1) de Kok 1995b
      del 120kb upstream N/A (1) de Kok 1996
      del 200kb upstream N/A (1) de Kok 1996
      del 220kb upstream N/A (1) de Kok 1996
      del 30kb upstream N/A (1) de Kok 1996
      del 8kb upstream N/A (1) de Kok 1996
      del 2.6kb, 6.5kb, 7kb, 4.4kb upstream   French (1) de Kok 1996
    201-202delFK 601-606del6bp POU specific Japanese (1) Hagiwara 1998
    K202X 603del4 POU specific N/A (1) de Kok 1995a
    D215X 648delG POU specific N/A (1) de Kok 1995a
    T230I 689C>T POU specific N/A (1) Friedman 1997
    FS 862del4 POU homeo Finnish (1) Bitner-Glindzicz 1995
    L298X 895delA POU homeo N/A (1) de Kok 1995a
    A312V 935C>T POU homeo British (1) Bitner-Glindzicz 1995
    L317W 950T>G POU homeo N/A (1) de Kok 1995a
    R323G (mosaic) 967C>G POU homeo N/A (1) de Kok 1997
    R329G 985C>G POU homeo N/A (1) Friedman 1997
    R330S 990A>T POU homeo N/A (1) de Kok 1997
    K334E 1000A>G POU homeo N/A (1) de Kok 1995a