Document Detail

Spinal muscular atrophy diagnostics.
MedLine Citation:
PMID:  17761649     Owner:  NLM     Status:  MEDLINE    
Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN), which exists in 2 nearly identical copies (SMN1 and SMN2). Exon 7 of SMN1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of SMN2 does not cause spinal muscular atrophy. Small mutations are found in the other 5% of affected patients, and these mutations cluster in the 3' end of SMN1, a region important for protein oligomerization. SMN1 dosage testing can be used to determine the SMN1 copy number and to detect spinal muscular atrophy carriers and affected compound heterozygotes. Dosage testing is compromised by the presence of 2 SMN1 copies per chromosome, which occurs in about 2% of carriers. Finally, although SMN2 produces less full-length transcript than SMN1, the number of SMN2 copies modulates the phenotype.
Thomas W Prior
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  22     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2007 Aug 
Date Detail:
Created Date:  2007-08-31     Completed Date:  2007-11-08     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  952-6     Citation Subset:  IM    
Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.
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MeSH Terms
Cyclic AMP Response Element-Binding Protein / genetics*
DNA Mutational Analysis / standards
Early Diagnosis
Gene Dosage / genetics
Genetic Predisposition to Disease / genetics*
Genetic Testing / standards
Heterozygote Detection / methods
Mutation / genetics*
Nerve Tissue Proteins / genetics*
RNA-Binding Proteins / genetics*
SMN Complex Proteins
Spinal Muscular Atrophies of Childhood / diagnosis*,  genetics*,  physiopathology
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein
Grant Support
174615//PHS HHS
Reg. No./Substance:
0/Cyclic AMP Response Element-Binding Protein; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 0/SMN Complex Proteins; 0/SMN1 protein, human; 0/SMN2 protein, human; 0/Survival of Motor Neuron 1 Protein; 0/Survival of Motor Neuron 2 Protein

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

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