Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
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Background Mutations in the gene encoding periaxin (PRX) are known to cause autosomalrecessive 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 andsubsequent 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 inhealthy controls. Conclusions We believe that these novel compound heterozygous nonsense mutations arethe underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes inthis family were similar to those described previously for patients with PRX mutations. Wehave identified the first PRX mutation in a Korean patient with DSN.
Abstract
Background Mutations in the gene encoding periaxin (PRX) are known to cause autosomalrecessive 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 andsubsequent 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 inhealthy controls. Conclusions We believe that these novel compound heterozygous nonsense mutations arethe underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes inthis family were similar to those described previously for patients with PRX mutations. Wehave identified the first PRX mutation in a Korean patient with DSN.
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