J Clin Neurol.  2015 Jan;11(1):92-96. 10.3988/jcn.2015.11.1.92.

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Affiliations
  • 1Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea.
  • 2Department of Biological Science, Kongju National University, Gongju, Korea. kwchung@kongju.ac.kr
  • 3Department of Pathology, Ewha Womans University School of Medicine, Seoul, Korea.
  • 4Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. bochoi77@hanmail.net

Abstract

BACKGROUND
Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean patients with these mutations.
CASE REPORT
We examined a Korean DSN patient with an early-onset, slowly progressive, demyelinating neuropathy with prominent sensory involvement. Whole-exome sequencing and subsequent capillary sequencing revealed novel compound heterozygous nonsense mutations (p.R392X and p.R679X) in PRX. One mutation was transmitted from each of the patient's parents. No unaffected family member had both mutations, and the mutations were not found in healthy controls.
CONCLUSIONS
We believe that these novel compound heterozygous nonsense mutations are the underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes in this family were similar to those described previously for patients with PRX mutations. We have identified the first PRX mutation in a Korean patient with DSN.

Keyword

Dejerine-Sottas neuropathy; Charcot-Marie-Tooth disease; periaxin; whole-exome sequencing; peripheral nerve

MeSH Terms

Capillaries
Charcot-Marie-Tooth Disease
Codon, Nonsense
Hereditary Sensory and Motor Neuropathy*
Humans
Parents
Peripheral Nerves
Phenotype
Codon, Nonsense
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