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X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans

Title
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans
Authors
Kim Y.Choi K.-G.Park K.D.Lee K.S.Chung K.W.Choi B.-O.
Ewha Authors
최경규박기덕최병옥김영화
SCOPUS Author ID
최경규scopus; 박기덕scopus
Issue Date
2012
Journal Title
Clinical Genetics
ISSN
0009-9163JCR Link
Citation
vol. 81, no. 2, pp. 142 - 149
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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. © 2011 John Wiley & Sons A/S.
DOI
10.1111/j.1399-0004.2011.01642.x
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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