Mutation data of the KCNQ4 gene in deafness

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary Pattern Zygosity Mutation Position Onset Progress Ethnic Origin Reference Memo
M 853 1 A G285S 1 GGC-AGC at ntd 853 -> Gly-Ser at codon 285 DFNA2, Deafness, autosomal dominant 2 more severe, high frequencies, (50-90dB) at 500Hz, (90-120dB) at 4kHz AD*2 heterozygous exon 6. First glycine in the GYG sequence of K+ channel pores early chldhood or around puberty progressive French Kubisch, C. et al. Cell 96, 437 (1999) strong dominant-negative effect
M 853 1 T G285C 1 GGC-TGC at ntd 853 -> Gly-Cys at codon 285 DFNA2, Deafness, autosomal dominant 2 start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. AD heterozygous exon6. Pore region <10Y progressive American Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999)  
FD 211 13   211del13 1 13-bp del CAGCGCTCCTCGG at ntd 211 -> frameshift at codon 71, followed by a premature stop codon at amino acid position 134 DFNA2, Deafness, autosomal dominant 2 start with high frequencies. Average progression for high frequencies is about 5 times faster than low frequencies. AD heterozygous exon 1. N-termonal cytoplasmatic <10Y progressive Belgian Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999)  
M 827 1 C W276S 1 GTG-GTC at ntd 827 -> Trp-Ser at codon 276 DFNA2, Deafness, autosomal dominant 2 start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. AD heterozygous exon 5. Pore region <10Y progressive Dutch Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999)  
M 961 1 A G321S 1 GGC-AGC at ntd 961 -> Gly-Ser at codon 321 DFNA2, Deafness, autosomal dominant 2 start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. AD heterozygous exon 7. S6 transmembrane domain <10Y progressive Dutch Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999)  

*1 Abbreviations are as follows: M, Missense; FD, Frameshift Deletion.
*2 Abbreviations are as follows: AD, Autosomal Dominant.







Last updated 28 March 2000