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Table 3 Mutation detection rates associated with suspected HMSN in various populations

From: Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

Population

N total

Demyelinating/mixed polyneuropathy (CMT1, DSS , CHN $ )

Axonal polyneuropathy (CMT2)

  

N

(%)

N

(%)

  

PMP22(dup)

MPZ

EGR2

LITAF

NEFL

PMP22

GJB1

MFN2

NEFL

MPZ

GJB1

Spanish [15]

47

35

excl

8.6

-

-

-

2.9

17.1

7

-

-

0

57.1

Korean [16]

57

32

46,9

3.1

3.1

-

3.1

3.1

6.2

18

-

5.6

11.1

5.6

Italian [17]

172

170

57.6

2.4

0

-

-

1.2

7.1

0

-

-

-

-

Australian [18]

224

224£

60.7

3.1

-

-

-

1.3

12.1

0

-

-

-

-

Finnish [19]

58

23

excl

13.0

-

-

-

4.3

13.0

29

-

-

0

24.1

Japanese [20]

354

227

23.3

8.8

0.4

0

3.5

4.4

8.4

127

11.3

0

3.9

4.7

British [21]

775

443

28.2

4.2

3.3

-

9.5

5.3

25.8

NR

13.6

-

4.6

2.7

American [6]

153

145

51.6

3.4

0.7

-

0

3.4

5.5*

7

-

14.3

0

42.9

Russian [22]

174

108

53.7

4.6

-

-

-

1.9

7.4

32

-

-

0

3.1

European [9]

323

26

-

-

-

-

-

-

-

249

11.2

-

-

-

American [8]

13

0

-

-

-

-

-

-

-

13

23.1

-

-

-

American [23]

39

1

-

-

-

-

-

-

-

38

17,9

-

-

-

Average

2389

1407

41.8

5.0

0.5

0

2.2

2.6

8.8

520

12.2

1.3

3.2

10.0

This study

435

134

18.7

6.0

0

0

0.7

0

6.7

193

5.7

0.5

1.0

1.5

  1. The analyses were performed at referral centres for external patients (prospective testing of index cases). The discrepancy between N total and N CMT1/CMT2 are due to additional categories in the studies not listed in the table. - Data not available.
  2. Dejerine-Sottas syndrome.
  3. $Congenital hypomyelinating neuropathy.
  4. £NCV <50 m/s.
  5. *“CMTX”.
  6. 20/107, in 27 cases CMT1A were excluded at another laboratory.