ArticleAmerican journal of human genetics1994
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.Brain sciences · 2021Review
- Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.Human genetics · 2019Article
- Spinal muscular atrophy: development and implementation of potential treatments.Annals of neurology · 2013Review
- Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice.Neurobiology of disease · 2011Article
- Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.Human genetics · 2009Article
- A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.Journal of neurology · 2007Article
- High-resolution genetic and physical map of the Lgn1 interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis.Genome research · 2000Article
- Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.American journal of human genetics · 1999Article
- Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.American journal of human genetics · 1998Article
- De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.American journal of human genetics · 1997Article
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.American journal of human genetics · 1997Article
- When is a deletion not a deletion? When it is converted.American journal of human genetics · 1997Review
- Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.American journal of human genetics · 1997Article
- Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.Journal of medical genetics · 1997Article
- Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.American journal of human genetics · 1996Article
- Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.American journal of human genetics · 1996Article
- Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular medicine (Cambridge, Mass.) · 1996Review
- Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.Human genetics · 1996Article
- Gene deletions in spinal muscular atrophy.Journal of medical genetics · 1996Article
- Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients.Journal of inherited metabolic disease · 1996Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has been mapped to an 850-kb interval on 5q11.2-q13.3, between the centromeric D5S823 and telomeric D5S557 markers. We report a new complex marker, Ag1-CA, that lies in this interval, whose primers produce one, two, or rarely three amplification-fragment-length variants (AFLVs) per allele. Class I chromosomes are those which amplify a single AFLV allele, and class II chromosomes are those which amplify an allele with two or three AFLVs. Ag1-CA shows highly significant allelic association with type I SMA in both the French Canadian (Hôpital Sainte-Justine [HSJ]) and American (Ohio State University [OSU]) populations (P < .0001). Significant association between the Ag1-CA genotype and disease severity was also observed. Type I patients were predominantly homozygous for class I chromosomes (P = .0003 OSU; P = .0012 HSJ), whereas the majority of type II patients were heterozygous for class I and II chromosomes (P = .0014 OSU; P = .001 HSJ). There was no significant difference in Ag1-CA genotype frequencies between type III patients (P = .5 OSU; P = .25 HSJ) and the paired normal chromosomes from both carrier parents. Our results indicate that Ag1-CA is the most closely linked marker to SMA and defines the critical candidate-gene region. Finally, we have proposed a model that should be taken into consideration when screening candidate SMA genes.
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