Abstract
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.
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Abbreviations
- CMT:
-
Charcot-Marie-Tooth disease
- NCV:
-
Nerve conduction velocity
- NEFL :
-
Neurofilament light chain polypeptide
- PDPK:
-
Proline-directed protein kinase
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Acknowledgments
This work was supported by the Brain Korea 21 project, the Korea Research Foundation Grant funded by the Korean Government (MEST) (KRF-2007-313-E00397), and the Star Project at Kongju National University.
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J.S. Shin and K.W. Chung contributed equally to this work.
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Shin, J.S., Chung, K.W., Cho, S.Y. et al. NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. J Hum Genet 53, 936–940 (2008). https://doi.org/10.1007/s10038-008-0333-8
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DOI: https://doi.org/10.1007/s10038-008-0333-8
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