Charcot-Marie-Tooth comprehensive panel

Charcot-Marie-Tooth comprehensive panel

[63 genes]

TOURNAROUND TIME: 6 WEEKS

AARS AIFM1 BICD2 BSCL2 COX6A1 DCTN1 DNAJB2 DNM2 DYNC1H1 EGR2
FBLN5 FBXO38 FGD4 FIG4 FXN GAN GARS GDAP1 GJB1 GJB3
GNB4 HARS HINT1 HK1 HSPB1 HSPB8 IGHMBP2 INF2 KARS LITAF
LMNA LRSAM1 MARS MED25 MFN2 MME MORC2 MPZ MTMR2 NAGLU
NDRG1 NEFH NEFL PDK3 PLEKHG5 PMP22 PNKP PRX RAB7A SBF1
SBF2 SGPL1 SH3TC2 SLC12A6 SLC52A2 SLC52A3 SPG11 SURF1 TFG TRIM2
TRPV4 VCP YARS
AARS AIFM1 BICD2 BSCL2
COX6A1 DCTN1 DNAJB2 DNM2
DYNC1H1 EGR2 FBLN5 FBXO38
FGD4 FIG4 FXN GAN
GARS GDAP1 GJB1 GJB3
GNB4 HARS HINT1 HK1
HSPB1 HSPB8 IGHMBP2 INF2
KARS LITAF LMNA LRSAM1
MARS MED25 MFN2 MME
MORC2 MPZ MTMR2 NAGLU
NDRG1 NEFH NEFL PDK3
PLEKHG5 PMP22 PNKP PRX
RAB7A SBF1 SBF2 SGPL1
SH3TC2 SLC12A6 SLC52A2 SLC52A3
SPG11 SURF1 TFG TRIM2
TRPV4 VCP YARS

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

CMT is a complex disorder at the molecular level, with at least 1 000 genetic variants associated with about 80 genes (Timmerman et al., 2014). In the wide series described, molecular alteration is identified in 60%-70% of patients (80% of demyelinating forms and 25% of axonal forms) (Rossor et al., 2015). Approximately 90% of alterations are found in genes PMP22, MPZ, GJB1, and MFN2 (DiVicenzo et al., 2015), although this number varies among populations and is particularly reduced in regions with a high prevalence of recessive inheritance forms. 40%-50% of CMT cases are type 1 (CMT1, demyelinating form), of which 70-80% are caused by a duplication of a region of about 1.5 Mb in 17p12 containing 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).

REFERENCES
  1. 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.
  2. 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.
  3. Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.
  4. Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep;4(9):714-26. Review. PubMed PMID: 12951564.
  5. 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.

 

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