A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
Nat Genet
; 11(3): 335-7, 1995 Nov.
Article
em En
| MEDLINE
| ID: mdl-7581461
ABSTRACT
Spinal muscular atrophy (SMA) is a frequent autosomal recessive disease characterized by degeneration of the motor neurons of the spinal cord causing proximal paralysis with muscle atrophy. The region on chromosome 5q13 encompassing the disease gene is particularly unstable and prone to large-scale deletions whose characterization recently led to the identification of the survival motor neuron (SMN) gene. We now present a genetic analysis of 54 unrelated Spanish SMA families that has revealed a 4-basepair (bp) deletion (AGAG) in exon 3 of SMN in four unrelated patients. This deletion, which results in a frameshift and a premature stop codon, occurs on the same haplotype background, suggesting that a single mutational event is involved in the four families. The other patients showed either deletions of the SMN gene (49/54) or a gene conversion event changing SMN exon 7 into its highly homologous copy (cBCD541, 1/54). This observation gives strong support to the view that mutations of the SMN gene are responsible for the SMA phenotype as it is the first frameshift mutation reported in SMA.
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Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
/
Mutação da Fase de Leitura
/
Deleção de Sequência
/
Proteínas do Tecido Nervoso
Limite:
Humans
País como assunto:
Europa
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article