| Disorder |
Locus/gene |
Inheritance |
Protein |
Testing method |
| CMT1A |
17p11.2/PMP22 |
AD |
Peripheral myelin protein 22 |
Pulse-field gel electrophoresis, FISH, Southern blot |
| HNPP |
17p11.2/PMP22 |
AD |
Peripheral myelin protein 22 |
Mutation analysis, FISH, Long PCR-RFLP, Southern blot |
| CMT1B |
1q22/MPZ |
AD |
Myelin protein zero |
Sequencing, mutation scanning, mutation analysis |
| CMT1C |
16p13.1-p12.3/LITAF |
AD |
SIMPLE |
|
| CMT1D |
10q21.1-q22.1/EGR2 |
AD |
Early growth response protein 2 |
Sequencing, mutation scanning, mutation analysis |
| CMT2A |
1p36.2/KIF1B |
AD |
Kinesin-like protein KIF1B |
Direct DNA, linkage analysis |
| CMT2B |
3q21/RAB7 |
AD |
Ras-related protein Rab-7 |
Direct DNA, linkage analysis |
| CMT2C |
12q23-24/unknown |
AD |
Unknown |
Direct DNA, linkage analysis |
| CMT2D |
7p15/GARS |
AD |
Glycyl-tRNA synthetase |
Direct DNA, linkage analysis |
| CMT2E |
8p21/NEFL |
AD |
Neurofilament triplet L protein |
Sequencing |
| CMT2F |
7q11-21/unknown |
AD |
Unknown |
Linkage |
| CMT4A |
8q13-q21.1/GDAP1 |
AR |
Ganglioside-induced differentiation protein-1 |
Sequencing |
| CMT4B1 |
11q22/MTMR2 |
AR |
Myotubularin-related protein 2 |
|
| CMT4BB2 |
11p15/CMT4B2 |
AR |
SET binding factor 2 |
|
| CMT4C |
5q32/KIAA1985 |
AR |
Unknown |
|
| CMT4D |
8q24.3/NDRG1 |
AR |
NDRG1 protein |
|
| CMT4E |
10q21.1-q22.1/EGR2 |
AR |
Early growth response protein 2 |
Mutation analysis, sequencing |
| CMT4F |
19q13.1-q13.2/PRX |
AR |
Periaxin |
Mutation analysis, sequencing |
| CMTX |
Xq13.1/GJB1 |
X-linked |
Gap junction beta-1 protein (Connexin 32) |
Sequencing, mutation scanning, mutation analysis |
| dHMN I |
Unknown |
AD |
Unknown |
|
| dHMN II |
12q24.3/Unknown |
AD |
Unknown |
|
| dHMN III |
1q21-23/Unknown |
AR |
Unknown |
|
| dHMN V |
7p15/GARS |
AD |
Glycyl-tRNA synthetase |
|
| dHMN VI |
Unknown |
AR |
Unknown |
|
| dHMN VII |
2q14/Unknown |
AD |
Unknown |
|
| dHMN Jerash |
9p21.1-p12/Unknown |
AR |
Unknown |
|
| ALS4 |
9q34/Unknown |
AD |
Unknown |
|
| HMN Dynactin |
2p13/DCTN1 |
AD |
Dynactin |
|
| HSAN I |
9q22.1-q22.3/ SPTLC1 |
AD |
Serine palmitoyltransferase light chain 1 |
Sequencing |
| HSAN II |
Unknown |
AR |
Unknown |
|
| HSAN III (Riley Day) |
9q31/IKBKAP |
AR |
I-kappa-B kinase complex-associated protein |
Mutation analysis, quantitative PCR |
| HSAN IV |
1q21-q22/NTRK1 |
AR |
Tyrosine kinase for nerve growth factor |
|
| CMT, Charcot-Marie-Tooth disease; HNPP, hereditary neuropathy with liability to pressure palsies; DHMN, distal hereditary motor neuropathy; HSAN, hereditary sensory and autonomic neuropathy. |
