Document Detail


Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
MedLine Citation:
PMID:  9747038     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We investigated the proteolipid protein (PLP) gene in two brothers in a Japanese family with a connatal form of Pelizaeus-Merzbacher disease (PMD). Direct sequencing of the PLP gene revealed an A-to-T transition in exon 4, which led to an Asp-to-Val substitution at residue 202. Their mother was confirmed to be heterozygous for the mutation. The mutation was not found in 78 X-chromosomes of normal Japanese individuals. A correlation between the clinical severity of the disease in the brothers and the Asp202-to-Val mutation in the PLP gene was suggested.
Authors:
M Nagao; J Kadowaki
Related Documents :
23823758 - A large plasmodium vivax reservoir and little population structure in the south pacific.
23866298 - A clinical and molecular study of artesunate + sulphadoxine-pyrimethamine in three dist...
12161518 - A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with ...
9401008 - Two mutated hexa alleles in a druze patient with late-infantile tay-sachs disease.
22102848 - Elucidation of mu-opioid gene structure: how genetics can help predict responses to opi...
10849648 - Comparative aspects of high-altitude adaptation in human populations.
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of human genetics     Volume:  43     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  1998  
Date Detail:
Created Date:  1998-10-22     Completed Date:  1998-10-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  206-8     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, National Otaru Hospital, Hokkaido, Japan. CXQ04341@niftyserve.or.jp
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child
DNA-Binding Proteins / genetics*
Diffuse Cerebral Sclerosis of Schilder / genetics*
Exons*
Female
Humans
Japan
Male
Nuclear Family
Point Mutation*
Sex Chromosome Aberrations
Transcription Factors / genetics*
X Chromosome
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; 0/MYT1 protein, human; 0/Transcription Factors

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


Previous Document:  Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel G-protein signaling ...
Next Document:  Assignment of the ZIP kinase gene to human chromosome 19p13.3 by somatic hybrid analysis and fluores...