X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans
Version of Record online: 1 MAR 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 2, pages 142–149, February 2012
How to Cite
Kim, Y., Choi, K.-G., Park, K., Lee, K., Chung, K. and Choi, B.-O. (2012), X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans. Clinical Genetics, 81: 142–149. doi: 10.1111/j.1399-0004.2011.01642.x
- Issue online: 12 JAN 2012
- Version of Record online: 1 MAR 2011
- Accepted manuscript online: 3 FEB 2011 11:40AM EST
- Received 21 November 2010, revised and accepted for publication 31 January 2011
- X-linked Charcot-Marie-Tooth disease (CMTX)
Kim Y, Choi K-G, Park KD, Lee KS, Chung KW, Choi B-O. X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
X-linked dominant Charcot-Marie-Tooth disease (CMTX) is an inherited peripheral neuropathy, caused mainly by a mutation of connexin 32 (Cx32) gene. We performed a mutation analysis of Cx32 by direct sequencing of the coding sequence, then identified 23 mutations from 28 Korean CMTX families. Nine mutations were not reported previously: Gly5Ser, Ser26fs, Val37Leu, Thr86Ile, Val152fs, Phe153Cys, Asp178X, Ala197Val, and Ile214Asn. The extracellular 2 (EC2) domain of Cx32 protein was the hot spot mutation domain in 44% of Koreans. Transmembrane domain 4 was rarely affected in Koreans (4%), compared with 14% of Europeans. The EC1 and intracellular domain was not affected in Koreans, although they were frequently affected in Europeans. This study revealed that the frequencies of CMTX with Cx32 mutations are specific to different ethnic groups. The frequency of CMTX (5.3%) caused by Cx32 mutation in Koreans is similar to those in Asians but lower than those in Europeans. This study suggests differences between CMTX patients with Cx32 mutations and ethnic background.