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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.