Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous SMN1 deletions, resulting in an SMN1 -null genotype. A variable number of copies of SMN2 , the centromeric copy of SMN1 , fai...

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Bibliographic Details
Published in:Journal of molecular neuroscience 2015-05, Vol.56 (1), p.212-215
Main Authors: Ronchi, Dario, Previtali, Stefano Carlo, Sora, Maria Grazia Natali, Barera, Graziano, Del Menico, Benedetta, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo Pietro
Format: Article
Language:English
Subjects:
Atrophy
Biomedical and Life Sciences
Biomedicine
Cell Biology
Exons
Genetic disorders
Genotype & phenotype
Humans
Infant
Kinases
Male
Medical prognosis
Muscular Atrophy, Spinal - diagnosis
Muscular Atrophy, Spinal - genetics
Mutation
Neurochemistry
Neurology
Neurosciences
Patients
Phenotype
Proteomics
Survival of Motor Neuron 1 Protein - genetics
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Description
Summary:Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous SMN1 deletions, resulting in an SMN1 -null genotype. A variable number of copies of SMN2 , the centromeric copy of SMN1 , fails to compensate for the absence of SMN1 but can act as a modifier. Less than 5 % of patients with SMA display intragenic mutations on the second allele, detectable by direct sequencing. The effects of these mutations are not easily predictable, hindering a clear correlation with the clinical phenotype. We describe a novel SMN1 mutation that affected the donor splice site of exon 7 and resulted in an unusually severe SMA phenotype with rapid fatal outcome in an Italian infant.
ISSN:0895-8696
1559-1166
DOI:10.1007/s12031-014-0483-4