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

Dario Ronchi, Stefano Carlo Previtali, Maria Grazia Natali Sora, Graziano Barera, Benedetta Del Menico, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)212-215
Number of pages4
JournalJournal of Molecular Neuroscience
Volume56
Issue number1
DOIs
Publication statusPublished - May 1 2015

Keywords

  • Motor neuron disorder
  • Spinal muscular atrophy
  • Splice site mutation
  • Survival motor neuron

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Medicine(all)

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