Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

J Hum Genet. 2010 Nov;55(11):771-3. doi: 10.1038/jhg.2010.106. Epub 2010 Aug 26.

Abstract

We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2 kb deletion spanning from intron 4 to 3'-region of PMP22, which was likely generated by nonhomologous end joining. Severely affected patients carrying a PMP22 deletion must be analyzed for the mutations of the other copy of PMP22.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Exons / genetics*
  • Female
  • Gene Deletion*
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / physiopathology
  • Heterozygote*
  • Humans
  • Myelin Proteins / genetics*
  • Sequence Deletion / genetics*
  • Severity of Illness Index

Substances

  • Myelin Proteins
  • PMP22 protein, human