Demyelinating / intermediate Charcot-Marie-Tooth disease [37 genes]

Charcot-Marie-Tooth (CMT) disease, or sensorimotor neuropathy, is the most frequent hereditary neuromuscular disease, with a prevalence of 1/2,500 individuals (Suter and Sherer, 2003).

At the molecular level, CMT is a complex disorder, with at least 1,000 associated genetic variants in some 80 genes (Timmerman et al., 2014). In some wide described series, molecular alteration is identified in 60-70% of patients (80% of the demyelinating forms and 25% of the axonal forms) (Rossor et al., 2015). Approximately 90% of abnormalities are distributed in the PMP22, MPZ, GJB1, and MFN2 genes (DiVicenzo et al., 2015), although this value varies between populations, being particularly lower in regions with a high prevalence of recessive hereditary forms. Forty to fifty percent of CMT cases are demyelinating or type 1 (CMT1), of which 70-80% are caused by the duplication of a region of approximately 1,5 Mb which contains the PMP22 gene (CMT1A).

Hereditary motor neuropathy (HMN) comprises 10% of all hereditary neuropathies, with a diagnosis rate of 20-32% (Bansagi et al., 2017).

  • AIFM1: Cowchock syndrome
  • FBLN5:Neuropathy with/without age-related macular degeneration
  • GJB3: Peripheral neuropathy hearing loss syndrome
  • INF2: Sensorimotor neuropathy associated with focal segmental glomerulosclerosis
  • MPV17: Mitochondrial depletion syndrome type 6 (hepatocerebral)
  • SH3TC2: Distal median nerve mononeuropathy

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Demyelinating / intermediate Charcot-Marie-Tooth disease

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202008637

Demyelinating / intermediate Charcot-Marie-Tooth disease: View panel
  • AIFM1
  • C1orf194
  • CNTNAP1
  • COX6A1
  • CTDP1
  • DNM2
  • DRP2
  • EGR2
  • FBLN5
  • FGD4
  • FIG4
  • GDAP1
  • GJB1
  • GJB3
  • GNB4
  • HARS
  • HK1
  • INF2
  • KARS
  • LITAF
  • LRSAM1
  • MCM3AP
  • MPV17
  • MPZ
  • MTMR2
  • NDRG1
  • NEFL
  • PLEKHG5
  • PMP2
  • PMP22
  • PRX
  • SACS
  • SBF1
  • SBF2
  • SH3TC2
  • SURF1
  • YARS

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Charcot-Marie-Tooth disease [77 genes]

Hereditary neuropathies [150 genes]

References

  • Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh
  • V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology. 2017 Mar 28;88(13):1226-1234.
  • DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD,
  • Batish SD, Lupski JR, Higgins JJ. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014 Nov;2(6):522-9.
  • Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.
  • Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep;4(9):714-26.
  • Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes (Basel). 2014 Jan 22;5(1):13-32.