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 |
Memorization |
M |
5609 |
1 |
G |
Y1870C |
1 |
TAT-TGT at ntd 5609 -> Tyr-Cys at codon 1870 |
DFNA8, deafness, autosomal dominant 8 |
moderate-to-severe hearing deficit (60-80 dB) involved all frequencies. |
AD |
hetelozygous |
exon18, zona pellucida domain |
prelingual |
non-progressive |
Austrian |
Verhoeven,K. et al. Nat.Genet. 19, 60 (1998) |
|
M |
5458 |
1 |
T |
L1820F |
1 |
CTC-TTC at ntd 5458 -> Leu-Phe at codon 1820 |
DFNA12, deafness, autosomal dominant 12 |
mild-to-moderate severity. 20-80 dBHL. mild frequencies. |
AD |
hetelozygous |
exon17, zona pellucida domain |
prelingual or early childhood |
non-progressive |
Belgian |
Verhoeven,K. et al. Nat.Genet. 19, 60 (1998) |
18 afected members of DFNA12 family have both mutations (L1820F and G1824D) |
M |
5471 |
1 |
A |
G1824D |
1 |
GGT-GAT at ntd 5471 -> Gly-Asp at codon 1824 |
DFNA12, deafness, autosomal dominant 12 |
mild-to-moderate severity. 20-80 dBHL. mild frequencies. |
AD |
hetelozygous |
exon17, zona pellucida domain |
prelingual or early childhood |
non-progressive |
Belgian |
Verhoeven,K. et al. Nat.Genet. 19, 60 (1998) |
18 afected members of DFNA12 family have both mutations (L1820F and G1824D) |
M |
4856 |
1 |
C |
C1619S |
1 |
TGC-TCC at ntd 4856 -> Cys-Ser at codon 1619. Abolishe the first of the vinical cystein (1619Cys-Gly-Leu- 1622Cys) present in the D4 von Willebrand factor (vWf) type D repeat |
DFNA8/12, deafness, autosomal dominant |
mild-to-moderate severity. 20-80 dBHL. High frequencies. |
AD |
hetelozygous |
exon14, zonadhesin-like domain |
prelingual or early childhood |
progressive |
French |
Alloisio,N. et al. Eur.J.Hum.Genet. 7,255 (1999) |
|
S |
2941+1 |
1 |
A |
2941+1G->A |
2 |
ntd 2941+1G-A -> splice donor site (GT) change of the intron 9, predicting trancate protein of 971 amino acid. |
DFNB21, deafness, autosomal recessive 21 |
moderate severe-profaund. 70-110 dB. all frequencies. |
AR |
homolozygous |
trancated protein. Stop codon in: D2 vWf type D repeat |
prelingual |
ND*3 |
Lebanase |
Mustapha,M. et al. Hum.Mol.Genet. 8,409 (1999) |
|