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KMID : 1161520110150040301
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Animal Cells and Systems
2011 Volume.15 No. 4 p.301 ~ p.309
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Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12
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Kanwal Sumaira
Choi Byung-Ok
Kim Sang-Beom
Koo Hea-Soo
Kim Jee-Young
Hyun Young-Se
Lee Hye-Jin
Chung Ki-Wha
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Abstract
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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.
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KEYWORD
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Charcot-Marie-Tooth disease type 1A (CMT1A), copy number variation (CNV), nonrecurrent rearrangements, phenotype, PMP22
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