Document Detail


Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
MedLine Citation:
PMID:  15050444     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Charcot-Marie-Tooth disease type 1 (CMT1) is the most common inherited peripheral neuropathy and represents a genetically heterogeneous condition. In addition to the peripheral myelin protein 22 gene (PMP22) duplication (CMT1A), myelin protein zero gene (MPZ) mutations may account for a certain portion of CMT1 patients (CMT1B). OBJECTIVES: The authors analyzed the MPZ mutations in Taiwanese patients who do not have PMP22 duplication. Specifically, their clinical and molecular features were characterized. MATERIALS AND METHODS: Twenty-four of 57 unrelated Taiwanese patients with CMT1 were selected after excluding the CMT1A duplication. Subsequent analysis of the coding regions of the MPZ gene was performed with single-strand-conformation polymorphism (SSCP), which was then followed by nucleotide sequencing. RESULTS: Four missense mutations and one 4-base pair (bp) deletion, respectively, were identified in five patients, of which one mutation, c.173 T>A, has never been previously reported. Three missense mutations were located in exon 2, the other one in exon 3, and the deletion in exon 6. CONCLUSIONS: This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.
Authors:
Yi-Chung Lee; Bing-Wen Soong; Kon-Ping Lin; Hsiang-Ying Lee; Zin-An Wu; Ker-Pei Kao
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  219     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-03-30     Completed Date:  2004-06-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  95-100     Citation Subset:  IM    
Affiliation:
The Neurological Institute, Taipei Veterans General Hospital, No. 201, Sec. 2, Shih-Pai Road, Peitou District, Taipei 11217, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Adult
Biopsy
Charcot-Marie-Tooth Disease / genetics*,  pathology
Female
Humans
Male
Median Nerve / pathology
Myelin P0 Protein / genetics*
Neural Conduction
Point Mutation*
Polymorphism, Single-Stranded Conformational
Sural Nerve / pathology
Taiwan
Chemical
Reg. No./Substance:
0/Myelin P0 Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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