Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Mutation position |
Clinical feature |
Audiogram |
Onset |
Hereditary pattern |
Ethnic origin |
Zygosity |
Reference |
M |
35 |
1 |
A |
G12D |
1 |
GGT-GAT at ntd 35 -> Gly-Asp at codon 12 |
Erythrokeratodermia variabilis |
Cytoplasmic amino terminal (NT) |
transient figurate red patches and localozed or generalized hyperkeratosis |
Normal |
At birth or early childhood |
AD*2 |
Caucasian |
heterozygous |
Richard, G. et al. Nat. Genet. 20, 366 (1998) |
M |
34 |
1 |
C |
G12R |
1 |
GGT-CGT at ntd 34 -> Gly-Arg at codon 12 |
Erythrokeratodermia variabilis |
Cytoplasmic amino terminal (NT) |
transient figurate red patches and localozed or generalized hyperkeratosis |
Normal |
At birth or early childhood |
AD |
Caucasian (Swiss) |
heterozygous |
Richard, G. et al. Nat. Genet. 20, 366 (1998) |
M |
256 |
1 |
A |
C86S |
1 |
TGC-AGC at ntd 256 -> Cys-Ser at codon 86 |
Erythrokeratodermia variabilis |
2nd TM domain (M2) |
transient figurate red patches and localozed or generalized hyperkeratosis |
Normal |
At birth or early childhood |
AD |
Caucasian (USA/origin: Dutch) |
heterozygous |
Richard, G. et al. Nat. Genet. 20, 366 (1998) |
M |
256 |
1 |
A |
C86S |
1 |
TGC-AGC at ntd 256 -> Cys-Ser at codon 86 |
Erythrokeratodermia variabilis |
2nd TM domain (M2) |
transient figurate red patches and localozed or generalized hyperkeratosis, sporadic |
Normal |
At birth or early childhood |
AD |
Caucasian |
heterozygous |
Richard, G. et al. Nat. Genet. 20, 366 (1998) |
N |
538 |
1 |
T |
R180X |
1 |
CGA-TGA at ntd 538 -> Arg-Ter at codon 180 |
Deafness, non-syndromic, autosomal dominant (DFNA2) |
lacking the 4th TM domain(M4) and the 3rd intracellular domain(CT) at the carboxy terminus |
progressive, bilateral hearing impairment |
Mild-moderate, 20-55 dBHL, middle-high frequencies, gently sloping shape |
20-40 Years |
AD |
Chinese (province of China) |
heterozygous |
Xia, J. H. et al. Nat. Genet. 20, 370 (1998) |
M |
547 |
1 |
A |
E183K |
1 |
GAG-AAG at ntd 547 -> Glu-Lys at codon 183 |
Deafness, non-syndromic, autosomal dominant (DFNA2) |
2nd extracellular domain (E2) |
bilateral hearing impairment |
Mild-moderate, 20-55 dBHL, middle-high frequencies, gently sloping shape |
20-40 Years |
AD |
Chinese (Zhejiang province) |
heterozygous |
Xia, J. H. et al. Nat. Genet. 20, 370 (1998) |
D |
421 |
3 |
|
421delATT |
2 |
in-flame 3 bp del (421-423delATT) in one allele -> loss of as isoleucine residue at codon 141. |
Deafness, non-syndromic, autosomal (recessive/dominant ?) |
3rd conserved alpha-helical TM domain (M3) |
bilateral sensprineural hearing loss |
Moderate-profound, 45-85 dBHL, all frequencies, flat shape |
Pre-lingual or early childhood |
recessive(?) |
Chinese |
compound heterozugous |
Liu, XZ. et al. Hum. Mol. Genet. 9, 63 (2000) |
M |
421 |
1 |
G |
I114V |
2 |
ATT-GTT at ntd 421 in the other allele -> Ile->Val at codon 141 |
Deafness, non-syndromic, autosomal (recessive/dominant ?) |
3rd conserved alpha-helical TM domain (M3) |
bilateral sensprineural hearing loss |
Moderate-profound, 45-85 dBHL, all frequencies, flat shape |
Pre-lingual or early childhood |
recessive(?) |
Chinese |
compound heterozugous |
Liu, XZ. et al. Hum. Mol. Genet. 9, 63 (2000) |