Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary Pattern*2 |
Onset Age |
Reference |
M |
90 |
1 |
G |
I30M |
1 |
ATC-ATG at ntd 90 --> Ile-Met at codon 30 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Hayasaka (1993) Hum. Mol. Genet. 2, 1369. |
M |
188 |
1 |
T |
S63F |
1 |
TCC-TTC at ntd 188 --> Ser-Phe at codon 63 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Blanquet-Grossard (1995) Clin. Genet. 48, 281. |
M |
233 |
1 |
T |
S78L |
1 |
TCG-TTG at ntd 233 --> Ser-Leu at codon 78 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Nelis (1994) Hum. Genet. 94, 653. |
M |
400 |
1 |
A |
D134N |
1 |
GAC-AAC at ntd 400 --> Asp-Asn at codon 134 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Nelis (1994) Hum. Genet. 94, 653. |
N |
462 |
1 |
A |
Y154X |
1 |
TAC-TAA at ntd 462 --> Tyr-Term at codon 154 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Nelis (1994) Hum. Genet. 94, 653. |
N |
543 |
1 |
G |
Y181X |
1 |
TAC-TAG at ntd 543 --> Tyr-Term at codon 181 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Nelis (1994) Hum. Genet. 94, 653. |
P |
276 |
1 |
A |
V/V92 |
1 |
GTG-GTA at ntd 276 --> Val-Val at codon 92 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Nelis (1994) Hum. Genet. 94, 653. |
P |
684 |
1 |
T |
S/S228 |
1 |
AGC-AGT at ntd 684 --> Ser-Ser at codon 228 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Nelis (1994) Hum. Genet. 94, 653. |
M |
270 |
1 |
A |
D90E |
1 |
GAC-GAA at ntd 270 --> Asp-Glu at codon 90 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Hayasaka (1993) Nature Genet. 5, 31. |
M |
286 |
1 |
G |
K96E |
1 |
AAA-GAA at ntd 286 --> Lys-Glu at codon 96 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Hayasaka (1993) Nature Genet. 5, 31. |
M |
278 |
1 |
A |
G93E |
1 |
GGG-GAG at ntd 278 --> Gly-Glu at codon 93 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Ikegami (1997) Am. J. Med. Genet. 71, 246. |
M |
293 |
1 |
A |
R98H |
1 |
CGC-CAC at ntd 293--> Arg-His at codon 98 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Rouger (1996) Am. J. Hum. Genet. 58, 638. |
M |
293 |
1 |
C |
R98P |
2 |
CGC-CCC at ntd 293 --> Arg-Pro at codon 98 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Rouger (1996) Am. J. Hum. Genet. 58, 638. |
M |
292 |
1 |
T |
R98C |
1 |
CGC-TGC at ntd 292 --> Arg-Cys at codon 98 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Rouger (1996) Am. J. Hum. Genet. 58, 638. |
M |
188 |
1 |
G |
S63C |
1 |
TCC-TGC at ntd 188 --> Ser-Cys at codon 63 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity |
AD |
early |
Hayasaka (1993) Nature Genet. 5, 266. |
M |
499 |
1 |
C |
G167R |
1 |
GGG-CGG at ntd 499 --> Gly-Arg at codon 167 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity |
AD |
early |
Hayasaka (1993) Nature Genet. 5, 266. |
M |
242 |
1 |
G |
H81R |
1 |
CAC-CGC at ntd 242 --> His-Arg at codon 81 |
Charcot-Marie-Tooth disease type 1B |
severe distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Sorour (1997) Hum. Mutat. 9, 74. |
M |
233 |
1 |
T |
S78L |
1 |
TCG-TTG at ntd 233 --> Ser-Leu at codon 78 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Latour (1995) Hum. Mutat. 6, 50. |
M |
303 |
1 |
C |
W101C |
1 |
TGG-TGC at ntd 303 --> Trp-Cys at codon 101 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Latour (1995) Hum. Mutat. 6, 50. |
M |
341 |
1 |
C |
I114T |
1 |
ATA-ACA at ntd 341 --> Ile-Thr at codon 114 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity |
AD |
early |
Warner (1997) Hum. Mutat. 10, 21. |
M |
346 |
1 |
C |
N116H |
1 |
AAC-CAC at ntd 346 --> Asn-His at codon 116 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity |
AD |
early |
Warner (1997) Hum. Mutat. 10, 21. |
M |
382 |
1 |
A |
D128N |
1 |
GAC-AAC at ntd 382 --> Asp-Asn at codon 128 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity |
AD |
early |
Warner (1997) Hum. Mutat. 10, 21. |
M |
365 |
1 |
G |
N122S |
1 |
AAT-AGT at ntd 365 --> Asn-Ser at codon 122 |
Charcot-Marie-Tooth disease type 1B |
areflexia, severe scoliosis and mildly reduced nerve conduction velocity |
AD |
late |
Blanquet-Grossard (1996) Hum. Mutat. 8, 185. |
M |
404 |
1 |
C |
I135T |
1 |
ATA-ACA at ntd 404 --> Ile-Thr at codon 135 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Roa (1996) Hum. Mutat. 7, 36. |
M |
409 |
1 |
A |
G137S |
1 |
GGC-AGC at ntd 409 --> Gly-Ser at codon 137 |
Charcot-Marie-Tooth disease type 1B |
ankle weakness, footdrop and minor gait abnormality |
AD |
late |
Roa (1996) Hum. Mutat. 7, 36. |
P |
600 |
1 |
A |
G/G200 |
11 |
GGG-GGA at ntd 600 --> Gly-Gly at codon 200 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Roa (1996) Hum. Mutat. 7, 36. |
P |
684 |
1 |
T |
S/S228 |
10 |
AGC-AGT at ntd 684 --> Ser-Ser at codon 228 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Roa (1996) Hum. Mutat. 7, 36. |
M |
292 |
1 |
A |
R98S |
1 |
CGC-AGC at ntd 292 --> Arg-Ser at codon 98 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Warner (1996) Neuron 17, 451. |
P |
684 |
1 |
T |
S/S228 |
1 |
AGC-AGT at ntd 684 --> Ser-Ser at codon 228 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Warner (1996) Neuron 17, 451. |
M |
292 |
1 |
T |
R98C |
1 |
CGC-TGC at ntd 292 --> Arg-Cys at codon 98
|
Dejerine-Sottas syndrome |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Warner (1996) Neuron 17, 451. |
FD |
307 |
1 |
|
307delA |
1 |
1-bp del of A at nucleotide 307 --> frameshift at codon 103 |
Dejerine-Sottas syndrome |
distal muscle atrophy and areflexia |
AD |
early |
Warner (1996) Neuron 17, 451. |
FD |
522 |
4 |
|
522delGCTT |
1 |
4-bp del of GCTT at nucleotides 522-525 --> frameshift at codon 175 |
Dejerine-Sottas syndrome |
severe distal muscle atrophy, areflexia and foot deformity |
AR |
early |
Warner (1996) Neuron 17, 451. |
N |
643 |
1 |
T |
Q215X |
1 |
CAG-TAG at ntd 643 --> Gln-Term at codon 215 |
Congenital hypomyelination |
severely reduced nerve conduction velocity |
AD |
early |
Warner (1996) Neuron 17, 451. |
D |
186 |
3 |
|
186delCTC |
1 |
3-bp del of CTC at nucleotides 186-188 --> del of Ser at codon 63 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Kulkens (1993) Nature Genet. 5, 35. |
D |
190 |
3 |
|
190delTTC |
1 |
3-bp del of TTC at nucleotides 190-192 --> del of Phe at codon 64 |
Dejerine-Sottas syndrome |
distal muscle atrophy, areflexia and foot deformity |
AR |
early |
Ikegami (1996) Biochem. Biophys. Res. Commun. 222, 107. |
FI |
663 |
0 |
GC |
663insGC |
1 |
2-bp ins of GC at nucleotide 663 --> frameshift at codon 222 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity and sensory loss |
AD |
early |
Rautenstrauss (1994) Hum. Mol. Genet. 3, 1701. |
D |
697 |
4 |
|
697delAGTG |
1 |
4-bp del of AGTG at nucleotides 697-700 --> del of Ser and frameshift at codon 233 |
Charcot-Marie-Tooth disease type 1B |
severely reduced nerve conduction velocity |
AD |
early |
Bellone (1996) Hum. Mutat. 7, 377. |
ID |
258 |
8 |
CCTCT |
258indel8bp |
1 |
ACCCTACA-CCTCT at nucleotides 258-265 --> GlnProTyrIle-HisLeuPhe at codon 86-89 |
Dejerine-Sottas syndrome |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Silander (1996) Hum. Mutat. 8, 304. |
M |
233 |
1 |
T |
S78L |
1 |
TCG-TTG at ntd 233 --> Ser-Leu at codon 78 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Bort (1997) Hum. Genet. 99, 746. |
M |
292 |
1 |
T |
R98C |
1 |
CGC-TGC at ntd 292 --> Arg-Cys at codon 98 |
Dejerine-Sottas syndrome |
severely reduced nerve conduction velocity |
AD |
early |
Bort (1997) Hum. Genet. 99, 746. |
S |
449-1 |
1 |
C |
IVS3-1G->C |
1 |
G-C at nucleotide 449-1 in intron 3 --> aberrant splicing |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Bort (1997) Hum. Genet. 99, 746. |
FD |
554 |
1 |
|
554delG |
1 |
1-bp del of G at nucleotide 554 --> frameshift at codon 185 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Bort (1997) Hum. Genet. 99, 746. |
DU |
615 |
0 |
GGGAAATTGCACAAGCC |
615dup17bp |
1 |
17-bp dup of GGGAAATTGCACAAGCC at nucleotide 615 --> frameshift at codon 205 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Bort (1997) Hum. Genet. 99, 746. |
P |
600 |
1 |
A |
G/G200 |
1 |
GGG-GGA at ntd 600 --> Gly-Gly at codon 200 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Bort (1997) Hum. Genet. 99, 746. |
P |
684 |
1 |
T |
S/S228 |
1 |
AGC-AGT at ntd 684 --> Ser-Ser at codon 228 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Bort (1997) Hum. Genet. 99, 746. |
P |
731 |
1 |
T |
R/L244 |
1 |
CGC-CTC at ntd 731 --> Arg-Leu at codon 244 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Bort (1997) Hum. Genet. 99, 746. |
M |
291 |
1 |
T |
R98C |
1 |
CGC-TGC at ntd 291 --> Arg-Cys at codon 98 |
Dejerine-Sottas syndrome |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Komiyama (1997) J. Neurol. Sci. 149, 103. |
M |
101 |
1 |
G |
T34I |
1 |
ACC-AUC at ntd 101 --> Thr-Ile at codon 34 |
Dejerine-Sottas syndrome |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
late |
Gabreels-Festen (1996) Neurology 47, 761. |
M |
292 |
1 |
T |
R98C |
1 |
CGC-TGC at ntd 292 --> Arg-Cys at codon 98 |
Dejerine-Sottas syndrome |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Gabreels-Festen (1996) Neurology 47, 761. |
M |
293 |
1 |
A |
R98H |
1 |
CGC-CAC at ntd 293 --> Arg-His at codon 98 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Gabreels-Festen (1996) Neurology 47, 761. |
M |
389 |
1 |
G |
K130R |
2 |
AAA-AGA at ntd 389 --> Lys-Arg at codon 130 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Gabreels-Festen (1996) Neurology 47, 761. |
M |
403 |
1 |
C |
I135L |
1 |
ATA-CTA at ntd 403 --> Ile -Leu at codon 135 |
Dejerine-Sottas syndrome |
distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity |
AD |
early |
Gabreels-Festen (1996) Neurology 47, 761. |
M |
245 |
1 |
G |
Y82C |
1 |
TAT-TGT at ntd 245 --> Tyr-Cys at codon 82 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Himoro (1993) Biochem. Mol. Biol. Int. 31, 169. |
M |
402 |
1 |
A |
D134E |
1 |
GAC-GAA at ntd 402 --> Asp-Glu at codon 134 |
Charcot-Marie-Tooth disease type 1B |
distal muscle atrophy, areflexia and foot deformity |
AD |
early |
Nelis (1994) J. Med. Genet. 31, 811. |
P |
216 |
1 |
G |
216A/G |
2 |
polymorphism at ntd 216 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Hayasaka (1993) Nature Genet. 5, 31. |
P |
216 |
1 |
G |
216A/G |
1 |
polymorphism at ntd 216 |
Charcot-Marie-Tooth disease type 1B |
- |
- |
- |
Hayasaka (1993) Hum. Mol. Genet. 2, 1369. |