Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients

György Máté Milley, Edina Timea Varga, Zoltán Grosz, Csilla Nemes, Z. Arányi, Judit Boczán, Péter Diószeghy, Mária Judit Molnár, Anikó Gál

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Charcot-Marie-Tooth neuropathy (CMT) is a genetically and clinically heterogeneous group of neuromuscular disorders with an overall prevalence of 1 per 2500. Here we report the first comprehensive genetic epidemiology study of Hungarian CMT patients. 409 CMT1 and 122 CMT2 patients were enrolled and genetic testing of PMP22, GJB1, MPZ, EGR2 and MFN2 genes were performed routinely. NDRG1 and CTDP1 genes were screened only for founder mutations in Roma patients. Causative genetic mutations were identified in 67.2% of the CMT1 and in 33.6% of the CMT2 cases, which indicates an overall success rate of 59.9% in the study population. Considering all affected individuals, alterations were most frequently found in PMP22 (40.5%), followed by GJB1 (9.2%), MPZ (4.5%), MFN2 (2.5%), NDRG1 (1.5%), EGR2 (0.8%) and CTDP1 (0.8%). The phenotypic spectrum and the disease severity of the studied patients also varied broadly. Deafness and autoimmune disorders were more often associated with PMP22 duplication, while MFN2 and GJB1 mutations were frequently present with central nervous system abnormalities. Our study may be helpful in determining the strategy of genetic diagnostics in Hungarian CMT patients.

Original languageEnglish
JournalNeuromuscular Disorders
DOIs
Publication statusAccepted/In press - Jan 1 2017

Fingerprint

Charcot-Marie-Tooth Disease
Tooth
Genes
Mutation
Roma
Nervous System Malformations
Molecular Epidemiology
Genetic Testing
Deafness
Central Nervous System
Population

Keywords

  • Associated features
  • Charcot-Marie-Tooth disease
  • CMT
  • Epidemiology
  • Hereditary neuropathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients. / Milley, György Máté; Varga, Edina Timea; Grosz, Zoltán; Nemes, Csilla; Arányi, Z.; Boczán, Judit; Diószeghy, Péter; Molnár, Mária Judit; Gál, Anikó.

In: Neuromuscular Disorders, 01.01.2017.

Research output: Contribution to journalArticle

Milley, György Máté ; Varga, Edina Timea ; Grosz, Zoltán ; Nemes, Csilla ; Arányi, Z. ; Boczán, Judit ; Diószeghy, Péter ; Molnár, Mária Judit ; Gál, Anikó. / Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients. In: Neuromuscular Disorders. 2017.
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