Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

Mol Genet Metab. 2018 Nov;125(3):302-304. doi: 10.1016/j.ymgme.2018.08.005. Epub 2018 Aug 24.


Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c.155T > C, p.(Ile52Thr) that segregates with disease suggesting that PMP2 variants should be considered in patients with neuropathy and that it may be prudent to include in clinical CMT gene panels.

Keywords: CMT; Charcot-Marie-Tooth disease; Myelin P2 protein; PMP2; Peripheral myelin protein 2; Peripheral neuropathy.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Demyelinating Diseases / genetics
  • Demyelinating Diseases / pathology
  • Humans
  • Mutation
  • Myelin P2 Protein / genetics*
  • Neural Conduction / genetics
  • Pathology, Molecular*
  • Peripheral Nervous System Diseases / diagnosis
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology


  • Myelin P2 Protein
  • PMP2 protein, human

Supplementary concepts

  • Inherited Peripheral Neuropathy