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) |