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KMID : 1130620150110010092
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Journal of Clinical Neurology
2015 Volume.11 No. 1 p.92 ~ p.96
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Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
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Choi Ye-Ji
Hyun Young-Se
Nam Soo-Hyun
Koo Hea-Soo
Hong Young-Bin
Chung Ki-Wha
Choi Byung-Ok
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Abstract
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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.
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KEYWORD
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Dejerine-Sottas neuropathy, Charcot-Marie-Tooth disease, periaxin, whole-exome sequencing, peripheral nerve
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