A Family Harboring CMT1A Duplication and HNPP Deletion.

Author: Jung Hwa LEE ¹ ; Hee Jin KANG ; Hyunseok SONG ; Su Jin HWANG ; Sun Young CHO ; Sang Beom KIM ; Joonki KIM ; Ki Wha CHUNG ; Byung Ok CHOI
Author Information

1. Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, Korea. bochoi@ewha.ac.kr
Publication Type:Case Report
Keywords: Charcot-Marie-Tooth disease; HNPP; PMP22
MeSH: Charcot-Marie-Tooth Disease; Gene Dosage; Humans; Paralysis; Phenotype
From:Journal of Clinical Neurology 2007;3(2):101-104
CountryRepublic of Korea
Language:English
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.