Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary Pattern*2 |
Onset |
Reference |
M |
36 |
1 |
A |
H12Q |
1 |
CAC-CAA --> His-Gln at codon 12 |
Dejerine-Sottas syndrome |
areflexia and severely reduced nerve conduction velocity |
AD |
early |
Valentijn (1995) Hum. Mutat. 5, 76. |
M |
47 |
1 |
C |
L16P |
1 |
CTG-CCG --> Leu-Pro at codon 16 |
Charcot-Marie-Tooth disease type 1A |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Valentijn (1992) Nature Genet. 2, 288. |
M |
206 |
1 |
A |
M69K |
1 |
ATG-AAG --> Met-Lys at codon 69 |
Dejerine-Sottas syndrome |
distal muscle atrophy, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Roa (1993) Nature Genet. 5, 269. |
M |
215 |
1 |
T |
S72L |
1 |
TCG-TTG --> Ser-Leu at codon 72 |
Dejerine-Sottas syndrome |
distal muscle atrophy and areflexia |
AD |
early |
Roa (1993) Nature Genet. 5, 269. |
S |
448+1 |
1 |
A |
IVS3+1G->A |
1 |
G-A at nucleotide 448+1 in intron 3 --> aberrant splicing |
Charcot-Marie-Tooth disease type 1A |
distal muscle atrophy and reduced nerve conduction velocity |
AD |
early |
Nelis (1994) Hum. Mol. Genet. 3, 515. |
M |
236 |
1 |
G |
S79C |
1 |
TCT-TGT --> Ser-Cys at codon 79 |
Charcot-Marie-Tooth disease type 1A |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Roa (1993) N. Engl. J. Med. 329, 96. |
M |
353 |
1 |
T |
T118M |
2 |
ACG-ATG --> Thr-Met at codon 118 |
Charcot-Marie-Tooth disease type 1A |
severe distal muscle atrophy, areflexia and foot deformity |
AR |
late |
Roa (1993) Nature Genet. 5, 189. |
M |
440 |
1 |
G |
L147R |
1 |
CTT-CGT --> Leu-Arg at codon 147 |
Charcot-Marie-Tooth disease type 1A |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Navon (1996) Hum. Genet. 97, 685. |
M |
320 |
1 |
T |
G107V |
1 |
GGT-GTT --> Gly-Val at codon 107 |
Charcot-Marie-Tooth disease type 1A |
severe distal muscle atrophy |
AD |
early |
Marrosu (1997) Neurology 48, 489. |
FD |
19 |
2 |
|
19delAG |
1 |
2-bp del of AG at nucleotides 19-20 --> frameshift at codon 7 |
Hereditary neuropathy with liability to pressure palsies |
recurrent transient muscle palsies and paresthesias, hyporeflexia and foot deformity |
AD |
early |
Nicholson (1994) Nature Genet. 6, 263. |
FI |
282 |
0 |
G |
282insG |
1 |
1-bp ins of G at nucleotide 282 --> frameshift at codon 95 |
Hereditary neuropathy with liability to pressure palsies |
recurrent transient muscle palsies and paresthesias, hyporeflexia and foot deformity |
AD |
early |
Young (1997) Neurology 48, 450. |
M |
298 |
1 |
A |
G100R |
1 |
GGA-AGA --> Gly-Arg at codon 100 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity |
AD |
early |
Bort (1997) Hum. Genet. 99, 746. |
S |
34+1 |
1 |
T |
IVS1+1G->T |
1 |
G-T at nucleotide 34+1 in intron1 --> aberrant splicing |
Charcot-Marie-Tooth disease type 1A |
recurrent transient muscle palsies and paresthesias, hyporeflexia and foot deformity |
AD |
early |
Bort (1997) Hum. Genet. 99, 746. |
FD |
281 |
1 |
|
281delG |
1 |
1-bp del of G at nucleotide 281 --> frameshift at codon 94 |
Charcot-Marie-Tooth disease type 1A |
severe distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Ionasescu (1997) Muscle Nerve 20, 1308. |