CMT – Demyelinating / intermediate panel

CMT – Demyelinating / intermediate panel

[30 genes]

TOURNAROUND TIME: 6 WEEKS

AIFM1 COX6A1 DNM2 EGR2 FBLN5 FGD4 FIG4 GDAP1 GJB1 GJB3
GNB4 HARS HK1 INF2 KARS LITAF LRSAM1 MPV17 MPZ MTMR2
NDRG1 NEFL PLEKHG5 PMP22 PRX SBF1 SBF2 SH3TC2 SURF1 YARS
AIFM1 COX6A1 DNM2 EGR2
FBLN5 FGD4 FIG4 GDAP1
GJB1 GJB3 GNB4 HARS
HK1 INF2 KARS LITAF
LRSAM1 MPV17 MPZ MTMR2
NDRG1 NEFL PLEKHG5 PMP22
PRX SBF1 SBF2 SH3TC2
SURF1 YARS
RELATED PHENOTYPES
Neuropathy with/without age-related macular degeneration FBLN5
Peripheral neuropathy with hearing loss GJB3
Sensorimotor neuropathy associated with focal segmental glomerulosclerosis INF2
Cowchock syndrome AIFM1
Mitochondrial DNA depletion syndrome type 6 (hepatocerebral type) MPV17
  • 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.

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para más información

Los ajustes de cookies de esta web están configurados para "permitir cookies" y así ofrecerte la mejor experiencia de navegación posible. Si sigues utilizando esta web sin cambiar tus ajustes de cookies o haces clic en "Aceptar" estarás dando tu consentimiento a esto.

Cerrar