Document Detail

Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.
MedLine Citation:
PMID:  1679910     Owner:  NLM     Status:  MEDLINE    
The disease locus for the clinically heterogeneous childhood spinal muscular atrophies (SMA) maps to the chromosome 5 subregion, 5q11.2-13.3. The beta-subunit of beta-D-N-acetylhexosaminidase (hexosaminidase) (EC (Hex B) maps to the same region, and the protein required for substrate recognition by this enzyme, GM2-activator protein, likewise maps to chromosome 5. We have investigated the possibility of allelic variation among some forms of SMA and hexosaminidase deficiency. Recombination between the Hex B and SMA loci eliminates this enzyme as a candidate site for defects causing the illness. Furthermore, we show that, despite previous evidence to the contrary, the GM2-activator locus does not map to chromosome 5, thereby eliminating it as a candidate gene for SMA.
P W Kleyn; L M Brzustowicz; K C Wilhelmsen; N B Freimer; J M Miller; T L Munsat; T C Gilliam
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  41     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1991 Sep 
Date Detail:
Created Date:  1991-10-11     Completed Date:  1991-10-11     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1418-22     Citation Subset:  AIM; IM    
Department of Psychiatry, Columbia University, New York, NY 10032.
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MeSH Terms
Amino Acid Sequence
DNA / analysis
G(M2) Activator Protein
Gene Amplification
Hexosaminidase B
Molecular Sequence Data
Muscular Atrophy, Spinal / enzymology,  genetics*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Proteins / genetics*
beta-N-Acetylhexosaminidases / genetics*
Grant Support
Reg. No./Substance:
0/G(M2) Activator Protein; 0/Proteins; 9007-49-2/DNA; EC B; EC

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