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NEUROLOGY 2005;64:1964-1967
© 2005 American Academy of Neurology
Brief Communications

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24

H. -J. Kim, MD*, S. H. Hong, MD, PhD*, C. -S. Ki, MD, PhD*, B. -J. Kim, MD, PhD, J. -S. Shim, MD, PhD, S. -H. Cho, J. -H. Park and J. -W. Kim, MD, PhD

From the Departments of Laboratory Medicine (Drs. H.-J. Kim, Ki, and J.-W. Kim), Otorhinolaryngology-Head and Neck Surgery (Dr. Hong), Neurology (Dr. B.-J. Kim), and Orthopedic Surgery (Dr. Shim) and National Research Laboratory for Population Genomics (Drs. H.-J. Kim, Cho, Park, and J.-W. Kim), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Address correspondence and reprint requests to Dr. J.-W. Kim, Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul, Korea 135-710; e-mail: jwonk{at}smc.samsung.co.kr

The authors describe a Korean family with X-linked recessive Charcot–Marie–Tooth disease (CMT) having deafness and optic neuropathy. An X chromosome-wide linkage analysis identified a 15.2-cM candidate region flanked by DXS990 and DXS8067 on Xq21.32-q24 with the maximum lod score at DXS8077 (3.62, {theta} = 0.00). This locus does not overlap previously identified four loci for X-linked CMT, and the authors propose it as CMTX5.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the June 14 issue to find the title link for this article.

*These authors contributed equally to this work.

Supported by the National Research Laboratory Grant from the Korea Institute of Science and Technology Evaluation and Planning.

Received October 6, 2004. Accepted in final form February 26, 2005.




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I. G. Huttner, M. L. Kennerson, S. W. Reddel, D. Radovanovic, and G. A. Nicholson
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease
Neurology, December 12, 2006; 67(11): 2016 - 2021.
[Abstract] [Full Text] [PDF]


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