A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype

J Neurol Sci. 1998 Apr 1;156(2):167-71. doi: 10.1016/s0022-510x(98)00028-8.


We present a male patient with Dejerine-Sottas disease phenotype, who had a small direct tandem duplication of the Po gene. The pathology of the sural nerve showed hypomyelinated fibers with absence of active demyelination and onion-bulb formations composed of two parallel layers of basement membrane, consistent with congenital hypomyelination neuropathy (CHN). However, his clinical features were more severe than those of previously reported CHN patients. A GGCA insertion was identified at the position of nucleotide 560 in the myelin protein zero (Po) gene. This insertional mutation was located in exon 4 coding for the transmembrane domain of the Po gene and caused a shift of reading frame, creating a stop codon. The mutation of the transmembrane domain probably has the largest impact on Po function. The mutation was not identified in both parents.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, Pair 11
  • Genetic Carrier Screening
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Humans
  • Male
  • Mutagenesis, Insertional
  • Myelin P0 Protein / genetics*
  • Phenotype
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Sural Nerve / ultrastructure


  • Myelin P0 Protein