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.

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype / D. Ronchi, S.C. Previtali, M.G.N. Sora, G. Barera, B. Del Menico, S. Corti, N. Bresolin, G.P. Comi. - In: JOURNAL OF MOLECULAR NEUROSCIENCE. - ISSN 0895-8696. - 56:1(2015 May), pp. 212-215. [10.1007/s12031-014-0483-4]

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype

D. Ronchi
;
B. Del Menico;S. Corti;N. Bresolin
Penultimo
;
G.P. Comi
Ultimo
2015

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.
Spinal muscular atrophy; Survival motor neuron; Motor neuron disorder; Splice site mutation
Settore MED/26 - Neurologia
mag-2015
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/295312
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