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Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

Title
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease
Authors
Choi B.-O.Koo S.K.Park M.-H.Rhee H.Yang S.-J.Choi K.-G.Jung S.-C.Kim H.S.Hyun Y.S.Nakhro K.Lee H.J.Woo H.-M.Chung K.W.
Ewha Authors
최경규최병옥김한수정성철
SCOPUS Author ID
최경규scopus; 김한수scopus; 정성철scopus
Issue Date
2012
Journal Title
Human Mutation
ISSN
1059-7794JCR Link
Citation
vol. 33, no. 11, pp. 1610 - 1615
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. As several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes, exact genetic diagnostics have become very important for executing personalized therapy. Whole-exome sequencing has recently been introduced as an available method to identify rare or novel genetic defects from genetic disorders. Particularly, CMT is a model disease to apply exome sequencing because more than 50 genes (loci) are involved in its development with weak genotype-phenotype correlation. This study performed the exome sequencing in 25 unrelated CMT patients who revealed neither 17p12 duplication/deletion nor several major CMT genes. This study identified eight causative heterozygous mutations (32%). This detection rate seems rather high because each sample was tested before the study for major genetic causes. Therefore, this study suggests that the exome sequencing can be a highly exact, rapid, and economical molecular diagnostic tool for CMT patients who are tested for major genetic causes. © 2012 Wiley Periodicals, Inc..
DOI
10.1002/humu.22143
Appears in Collections:
의과대학 > 의학과 > Journal papers
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