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A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS
Toni Segovia-Silvestre1, Antonio L Andreu, Cristofol Vives-Bauza
1Centre d'Investigacions en Bioquímica i Biologia Molecular, Hospital Gral, Universitari Vall d'Hebron, Barcelona, Spain.
Introduction:
Details of the mutations in the Cu/Zn superoxide dismutase (SOD1) gene in patients with the familial form of amyotrophic lateral sclerosis are currently being gathered in order better to understand the genotype-phenotype relationship in this disorder. We report on a large family with 15 affected individuals spanning five generations.
Results:
A novel mutation in the exon 3 of the SOD1 gene, an A-to-T transversion at nucleotide position 696 in the heterozygous state leading to a D76V amino acid change, was identified in four family members. Affected individuals showed a homogeneous phenotype, characterized by initial symptoms in the lower limbs, clinical onset in the fifth decade of life, long survival and high penetrance.
Discussion:
Our results are discussed in relation to the previously reported exon 3 SOD1 mutations, paying particular attention to the phenotypic characteristics of ALS-SOD1 patients.