A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps

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Neurology. 2005 Jun 14;64(11):1964-7.

A novel locus for X-linked recessive CMT with deafness and optic

neuropathy maps to Xq21.32-q24.

Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.

Department of Laboratory Medicine, Sungkyunkwan University School of

Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul, Korea 135-710.

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.