Official Journal of the Italian Society of Orthopaedics and Traumatology
From: Pes cavus and hereditary neuropathies: when a relationship should be suspected
Gene | Inheritance | Locus | |
---|---|---|---|
HMSN1-CMT1 | |||
CMT1A: | PMP-22 | Dominant/sporadic | 17p11 |
CMT1B: | P0 protein | Dominant | lq22 |
CMT1C: | LITAF | Dominant | 16pl3 |
CMT1D: | EGR2 | Dominant | 10q21 |
CMT1E: | P0 protein | Dominant | lq22 |
CMT1F: | Neurofilament light chain | Dominant/sporadic | 8p21 |
HMSN2-CMT2 | |||
CMT2A1: | KIF1B | Dominant | lp36 |
CMT2A2: | MFN2 | Dominant | lp36 |
CMT2B: | RAB7 | Dominant | 3ql3-q22 |
CMT2C: | TRPV4 | Dominant | 12q23-q24 |
CMT2D: | GARS | Dominant | 7pl5 |
CMT2E: | Neurofilament light chain | Dominant | 8p21 |
CMT2F: | HSPB1 | Dominant/recessive | 7q11-q21 |
CMT2G: | Dominant | 12ql2 | |
CMT2I: | PO | Dominant | lq22 |
CMT2J: | PO | Dominant | lq22 |
CMT2L: | HSPBE | Dominant | 12q24 |
AR-CMT2A | Lam in A/C | Recessive | lq21.2 |
AR-CMT2E | Med25 | Recessive | 19ql3.3 |
CMT2K: | GDAP1 | Dominant/recessive | 8q21 |
HMSN3—DSN/CHN | |||
DSNA | PMP-22 | Dominant/recessive | 17p11-2 |
DSNB | MP2 | Dominant/recessive | lq22 |
DSNC | EGRP2 | Dominant | 10q21/EGR2 |
DSND | Dominant | Sq23-24 | |
DSN | PRX | Recessive | 19ql3.1-13.2 |
DSN | GDAP1 | Recessive | 8ql3-21.1 |
Congenital hypomyelination | |||
CHA | PMO-22 | Dominant | 17p11.2 |
CHB | MP2 | Dominant | lq22 |
CHC | EGRP2 | Dominant/recessive | 10q21 |
HMSN4-CMT4 | |||
CMT4A: | GDAP1 | Recessive | 8q21 |
CMT4B1: | MTMR2 | Recessive | 11q23 |
CMT4B2: | SBF2 | Recessive | 11p15 |
CMT4C: | SH3TC2 (KLAA1985) | Recessive | 5q32 |
CMT4D: | NDRG1 | Recessive | 8q24 |
CMT4E: | EGR2 | Dominant/recessive | 10q21 |
CMT4F: | Periaxin | Recessive | 19ql3 |
CMT4H: | FGD4 | Recessive | 12ql2 |
CMT4J | FIG4 | Recessive | 6q21 |
HSMN5 | |||
Silver syndrome | Seipin/BSCL2 | Dominant | 11ql3 |
Troyer syndrome | SPG20 | Recessive | 13ql2.3 |