Document Detail


Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
MedLine Citation:
PMID:  1720927     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pelizaeus-Merzbacher disease (PMD) is an X-linked neurologic disorder characterized by dysmyelination in the central nervous system. Proteolipid protein (PLP), a major structural protein of myelin, is coded on the X chromosome. It has been postulated that a defect in the PLP gene is responsible for PMD. Different single-nucleotide substitutions have been found in conserved regions of the PLP gene of four unrelated PMD patients. Novel Southern blot patterns suggested a complex rearrangement in a fifth family. Linkage to PLP has been shown in others. We evaluated the PLP locus in a four-generation family with two living males affected with X-linked PMD. Analysis of DNA from the affected males revealed complete absence of a band, with PLP probes encompassing the promoter region, the entire coding region, and the 3' untranslated region and spanning at least 29 kb of genomic DNA. DNA from unaffected relatives gave the expected band pattern. Two obligate and one probable carrier women were hemizygous for the PLP locus by dosage analysis. Although it is unlikely, the previously described point mutations in PLP could represent polymorphisms. The finding of complete deletion of the PLP gene in our family is a stronger argument that mutations in PLP are responsible for X-linked PMD.
Authors:
W H Raskind; C A Williams; L D Hudson; T D Bird
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  49     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1991 Dec 
Date Detail:
Created Date:  1992-01-10     Completed Date:  1992-01-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1355-60     Citation Subset:  IM    
Affiliation:
Department of Medicine, University of Washington School of Medicine, Seattle 98195.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Chromosome Deletion*
Diffuse Cerebral Sclerosis of Schilder / genetics*
Dosage Compensation, Genetic
Female
Humans
Linkage (Genetics)*
Male
Middle Aged
Myelin Proteins / genetics*
Myelin Proteolipid Protein
Pedigree
Proteolipids / genetics*
X Chromosome*
Grant Support
ID/Acronym/Agency:
CA 16448/CA/NCI NIH HHS
Chemical
Reg. No./Substance:
0/Myelin Proteins; 0/Myelin Proteolipid Protein; 0/Proteolipids
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