Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

Hum Genet. 1992 Nov;90(3):231-4. doi: 10.1007/BF00220067.


Five Italian families with recurrence of cases of Charcot-Marie-Tooth disease (type Ia) were analysed using three closely linked DNA probes that detect polymorphisms in the region 17p11.2. The probe pVAW409R3 detected the presence of a duplication in all the affected subjects, but not in the subjects with normal electromyographic (EMG) findings. This observation confirms previous data indicating the association of the duplication with the disease, suggesting that, at least in populations of European origin, the duplication might be the molecular feature diagnostic of the pathological trait.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Electromyography
  • Female
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Multigene Family*
  • Pedigree
  • Polymorphism, Genetic
  • Recurrence