NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1

Ji Soo Shin, Ki Wha Chung, Sun Young Cho, Jiyoung Yun, Su Jin Hwang, Sung Hee Kang, En Min Cho, Seung Min Kim, Byung Ok Choi

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30 Scopus citations


Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies. Two types of Pro22 mutations have been previously reported: Pro22Ser in CMT2E with giant axons, and Pro22Thr in CMT1F. In this study, we identified another Pro22 mutation, Pro22Arg, in a Korean CMT1 family. An investigation to identify the clinical and pathological characteristics of the Pro22Arg revealed that it is associated with demyelinating neuropathy features in CMT1F. Histopathological findings showed onion bulb formations but no giant axons. It appears that the Pro22 mutations may influence not only the Thr-Pro phosphorylation site by proline-directed protein kinases but also other structural alteration of the NEFL protein in a different way.

Original languageEnglish
Pages (from-to)936-940
Number of pages5
JournalJournal of Human Genetics
Issue number10
StatePublished - Oct 2008


  • Charcot-Marie-Tooth disease type 1F (CMT1F)
  • Neurofilament light chain polypeptide (NEFL)
  • Peripheral neuropathy
  • Pro22Arg


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