Mutation data of the POU4F3 gene in deafness

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary Pattern*2 Zygousity Mutation Position Onset Progress Ethnic Origin Reference Memorization
FD 884 8   884del8 1 8-bp del GCTATCCA at ntd 887 frameshift at codon 295 and premature stop at position 299. Deafness, non-syndromic, autosomal dominant hearing threshold greater than 40dB (at 1000 and 2000 Hz), low frequency AD heterozygous exon 2. Theird herix of the POU homeo-domain. young adulthood progressive Israeli Jewish Vahava,O. et al. Science 279,1950(1998) Truncated protein presumably impairs high-affinity binding of this transcprition factor in a dominant-negative fashion

*1 Abbreviations is as follows: FD, Frameshift Deletion.
*2 Abbreviations is as follows: AD, Autosomal Dominant.








Last updated 1 Oct 1999