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

Animal Cells and Systems 2011년 15권 4호 p.301 ~ 309
Kanwal Sumaira, 최병옥, 김상범, 구혜수, 김지영, 현영세, 이혜진, 정기화,
소속 상세정보
 ( Kanwal Sumaira ) - Kongju National University Department of Biological Science
최병옥 ( Choi Byung-Ok ) - Ewha Womans University School of Medicine Department of Neurology
김상범 ( Kim Sang-Beom ) - Kyung Hee University School of Medicine Department of Neurology
구혜수 ( Koo Hea-Soo ) - Ewha Womans University School of Medicine Department of Pathology
김지영 ( Kim Jee-Young ) - Ewha Womans University School of Medicine Department of Neurology
현영세 ( Hyun Young-Se ) - Kongju National University Department of Biological Science
이혜진 ( Lee Hye-Jin ) - Kongju National University Department of Biological Science
정기화 ( Chung Ki-Wha ) - Kongju National University Department of Biological Science

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.

키워드

Charcot-Marie-Tooth disease type 1A (CMT1A); copy number variation (CNV); nonrecurrent rearrangements; phenotype; PMP22

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