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Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

Title
Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12
Authors
Kanwal S.Choi B.-O.Kim S.-B.Koo H.Kim J.Y.Hyun Y.S.Lee H.J.Chung K.W.
Ewha Authors
구혜수최병옥
SCOPUS Author ID
구혜수scopus
Issue Date
2011
Journal Title
Animal Cells and Systems
ISSN
1976-8354JCR Link
Citation
vol. 15, no. 4, pp. 301 - 309
Indexed
SCIE; SCOPUS; KCI WOS scopus
Abstract
Charcot-Marie-Tooth disease (CMT) is clinically heterogeneous hereditary motor and sensory neuropathies with genetic heterogeneity, age-dependent penetrance, and variable expressivity. Rare copy number variations by nonrecurrent rearrangements have recently been suggested to be associated with Charcot-Marie-Tooth 1A (CMT1A) neuropathy. In our previous study, we found three Korean CMT1A families with rare copy number variations (CNVs) on 17p12 by nonrecurrent rearrangement. Careful clinical examinations were performed in all the affected individuals with rare CNVs (n=19), which may be the first full study of a subject from a large CMT1A family with nonrecurrent rearrangement. The clinical phenotype showed no significant difference compared with common CMT1A patients, but with variable phenotypes. In particular, a broad intrafamilial phenotypic spectrum was observed within the same family, which may suggest the existence of a genetic modifier. This study may broaden the understanding of the role of CNVs in the pathogenesis of CMT. © 2011 Copyright Korean Society for Integrative Biology.
DOI
10.1080/19768354.2011.611172
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의학전문대학원 > 의학과 > Journal papers
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