Mutation data of the COCH/DFNA9 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 Author
M 151 1 T P51S 3 CCA-TCA at ntd 208 -> Pro-Ser at codon 51 DFNA9, Deafness, non-syndromic, autosomal dominant audiogram: predominant hearing impairment highfrequencies, expanding to all frequencies at a later stage. AD heterozygous exon 4. situated between cysteins and possibly interferes with proper COCH protein folding or its interection with extracellular matrix proteins. 30-45y progressive (very rapid) South Netherland de kok,Y.J. et al. Hum.Mol.Genet. 8,361(1999)
M 151 1 T P51S 1 CCA-TCA at ntd 208 -> Pro-Ser at codon 51 DFNA9, Deafness, non-syndromic, autosomal dominant audiogram: predominant hearing impairment highfrequencies, expanding to all frequencies at a later stage. AD heterozygous exon 4. situated between cysteins and possibly interferes with proper COCH protein folding or its interection with extracellular matrix proteins. 36-42y progressive (very rapid) Dutch de kok,Y.J. et al. Hum.Mol.Genet. 8,361(1999)
M 197 1 G V66G 1 GTA-GGA at ntd 253 -> Val-Gly at codon 66 DFNA9, Deafness, non-syndromic, autosomal dominant Hearing threshold: 250-800Hz. AD heterozygous exon 4. A region contains four conserved cysteins with homology to a domain in Limulus factor C 20y(16-28y) progressive North American Robertson,N.G. et al. Nat.Genet. 20,299(1998)
M 263 1 A G88E 1 GGA-GAA at ntd 319 -> Gly-Glu at codon 88 DFNA9, Deafness, non-syndromic, autosomal dominant high-frequencies being affected first, followed by middle and low frequencies. They become deaf in 20-40y AD heterozygous exon 5. A region contains four conserved cysteins with homology to a domain in Limulus factor C eary 20y progressive North American Robertson,N.G. et al. Nat.Genet. 20,299(1998)
M 349 1 C W117R 1 TGG-CGG at ntd 405 -> Trp-Arg at codon 117 DFNA9, Deafness, non-syndromic, autosomal dominant initially more profound at highfrequencies, variable progression to anacusis by 40-50y. AD heterozygous exon 5. A region contains four conserved cysteins with homology to a domain in Limulus factor C 20-30y progressive North American Robertson,N.G. et al. Nat.Genet. 20,299(1998)

*1 Abbreviations is as follows: M, Missense.
*2 Abbreviations is as follows: AD, Autosomal Dominant.








Last updated 1 Oct 1999