Skip to main content

Official Journal of the Italian Society of Orthopaedics and Traumatology

Table 1 Genetic classification of hereditary motor and sensory neuropathies

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

  1. Hereditary motor and sensor neuropathy (http://www.ncbi.nlm.nih.gov/omim)