title: Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.
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.
  
  
  METHODS
  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.
authors: Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea.
authors: Ye Ji
authors: YJ
authors: Choi
authors: Department of Biological Science, Kongju National University, Gongju, Korea.
authors: Young Se
authors: YS
authors: Hyun
authors: Department of Biological Science, Kongju National University, Gongju, Korea.
authors: Soo Hyun
authors: SH
authors: Nam
authors: Department of Pathology, Ewha Womans University School of Medicine, Seoul, Korea.
authors: Heasoo
authors: H
authors: Koo
authors: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Young Bin
authors: YB
authors: Hong
authors: Department of Biological Science, Kongju National University, Gongju, Korea.
authors: Ki Wha
authors: KW
authors: Chung
authors: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Byung-Ok
authors: BO
authors: Choi
keywords: Charcot-Marie-Tooth disease; Dejerine-Sottas neuropathy; periaxin; peripheral nerve; whole-exome sequencing
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