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MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

Title
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis
Authors
Choi B.-O.Kim S.-B.Kanwal S.Hyun Y.S.E.Park S.W.Koo H.Yoo J.H.Hyun J.W.Park K.D.Choi K.-G.Chung K.W.
Ewha Authors
최경규구혜수박기덕유정현최병옥
SCOPUS Author ID
최경규scopus; 구혜수scopus; 박기덕scopus; 유정현scopus
Issue Date
2011
Journal Title
International Journal of Molecular Medicine
ISSN
1107-3756JCR Link
Citation
vol. 28, no. 3, pp. 389 - 396
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. The objective of this study was to find the causative mutation(s) in a demyelinating autosomal dominant CMT family. A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. Linkage analysis mapped the underlying gene to a region on chromosome Iq22-q23 with a maximum two-point LOD score of 2.036. Sequencing analysis revealed a novel c.243C>G (His81Gln) mutation in the MPZ gene, which encodes the major integral membrane protein of the peripheral nerve system. MPZ is well known as a CMT-causative gene with wide phenotypic spectrum. The clinical symptoms were more similar to those of patients with the His81Arg than patients with the His81Tyr mutation. The novel mutation completely co-segregated with affected members, and was not found in controls. Therefore, we suggest that the identified mutation in MPZ is the underlying cause of CMT in the family. In addition, this study demonstrated that the clinical phenotypes may be variable with different mutations at the same site in the MPZ gene.
DOI
10.3892/ijmm.2011.678
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의학전문대학원 > 의학과 > Journal papers
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