Document Detail

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
MedLine Citation:
PMID:  8275092     Owner:  NLM     Status:  MEDLINE    
Dejerine-Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot-Marie-Tooth disease type 1 (CMT1), of which the major subtype, CMT1A, results either from duplication of a 1.5-megabase DNA region in chromosome 17p11.2-p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas patients identified individual missense point mutations present in the heterozygous state. These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.
B B Roa; P J Dyck; H G Marks; P F Chance; J R Lupski
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  5     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-04     Completed Date:  1994-02-04     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  269-73     Citation Subset:  IM    
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Hereditary Sensory and Motor Neuropathy / genetics*
Molecular Sequence Data
Myelin Proteins / genetics*
Point Mutation*
Protein Conformation
Reg. No./Substance:
0/Myelin Proteins; 0/PMP22 protein, human; 9007-49-2/DNA

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