Charcot-marie-tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

M. L. Mostacciuolo, E. Righetti, M. Zortea, V. Bosello, F. Schiavon, L. Vallo, L. Merlini, G. Siciliano, G. M. Fabrizi, N. Rizzuto, M. Milani, S. Baratta, F. Taroni

Research output: Contribution to journalArticlepeer-review


Charcot-Marie-Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. It is caused mainly by a 1.5 Mb duplication in 17p11.2, but also by mutations in the myelin genes PMP22 (peripheral myelin protein 22), MPZ (myelin protein zero), Cx32 (connexin 32; also called GJB1), and EGR2 (early growth response 2). In this study, we have screened 172 index cases of Italian families in which there was at least one subject with a CMT1 diagnosis for the duplication on 17p11.2 and mutations in these genes. Among 170 informative unrelated patients, the overall duplication frequency was 57.6%. A difference could be observed between the duplication frequency in familial cases (71.6%) and that observed in non-familial cases (36.8%). Among the non-duplicated patients, 12 were mutated in Cx32, four in MPZ, two in PMP22, and none in the EGR2. In the non-duplicated cases, the overall point mutation frequency for these genes was 25.0%. We describe the mutations identified, and consider possible genotype-phenotype correlation.

Original languageEnglish
Pages (from-to)32-41
Number of pages10
JournalHuman Mutation
Issue number1
Publication statusPublished - 2001


  • Charcot-Marie-Tooth disease type 1
  • CMT1
  • CMT4E
  • CMTX1
  • Connexin 32
  • Cx32
  • Déjérine-Sottas syndrome
  • DSS
  • Duplication
  • Early growth response 2
  • EGR2
  • Gap junction protein 1
  • GJB1
  • Hereditary motor and sensory neuropathy type I
  • HMSN1
  • HNPP
  • Italian
  • MPZ
  • Mutation frequency
  • Myelin protein zero
  • Neuropathy
  • PMP22

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Charcot-marie-tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families'. Together they form a unique fingerprint.

Cite this