CMT – Axonal / intermediate panel

CMT – Axonal / intermediate panel

[46 genes]

TOURNAROUND TIME: 6 WEEKS

AARS AIFM1 COX6A1 CHCHD10 DHTKD1 DNAJB2 DNM2 DYNC1H1 GAN GARS
GDAP1 GJB1 GNB4 HARS HINT1 HSPB1 HSPB8 IGHMBP2 INF2 KARS
KIF5A LMNA LRSAM1 MARS MED25 MFN2 MME MORC2 MPZ NAGLU
NEFH NEFL PDK3 PLEKHG5 RAB7A SGPL1 SLC12A6 SLC52A2 SLC52A3 SPG11
SURF1 TFG TRIM2 TRPV4 VCP YARS
AARS AIFM1 COX6A1 CHCHD10
DHTKD1 DNAJB2 DNM2 DYNC1H1
GAN GARS GDAP1 GJB1
GNB4 HARS HINT1 HSPB1
HSPB8 IGHMBP2 INF2 KARS
KIF5A LMNA LRSAM1 MARS
MED25 MFN2 MME MORC2
MPZ NAGLU NEFH NEFL
PDK3 PLEKHG5 RAB7A SGPL1
SLC12A6 SLC52A2 SLC52A3 SPG11
SURF1 TFG TRIM2 TRPV4
VCP YARS
RELATED PHENOTYPES
Axonal neuropathy with neuromyotonia HINT1
Agenesis of the corpus callosum with peripheral neuropathy SLC12A6
Hereditary motor and sensory neuropathy, Okinawa type TFG
Spastic paraplegia KIF5A
  • 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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