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    
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.
M Nagao; J Kadowaki
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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    
Department of Pediatrics, National Otaru Hospital, Hokkaido, Japan.
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MeSH Terms
DNA-Binding Proteins / genetics*
Diffuse Cerebral Sclerosis of Schilder / genetics*
Nuclear Family
Point Mutation*
Sex Chromosome Aberrations
Transcription Factors / genetics*
X Chromosome
Reg. No./Substance:
0/DNA-Binding Proteins; 0/MYT1 protein, human; 0/Transcription Factors

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