A Family Harboring CMT1A Duplication and HNPP Deletion |
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| Authors: | Jung Hwa Lee Hee Jin Kang Hyunseok Song Su Jin Hwang Sun-Young Cho Sang-Beom Kim Joonki Kim Ki Wha Chung and Byung-Ok Choi |
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| Institution: | aDepartment of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, Korea.;bDepartment of Neurology, Kyung Hee University, East West Neo Medical Center, Seoul, Korea.;cDepartment of Biological Science, Kongju National University, Gongju, Korea. |
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| Abstract: | Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion. |
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| Keywords: | Charcot-Marie-Tooth disease HNPP PMP22 |
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