Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.
We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a single copy of a novel SOD1 mutation, D96N. We propose that in this family both mutations are required for the development of disease.
Hand
C K
CK
Centre for Research in Neuroscience, McGill University, Montréal General Hospital Research Institute, Quebec, Canada.
Mayeux-Portas
V
V
Khoris
J
J
Briolotti
V
V
Clavelou
P
P
Camu
W
W
Rouleau
G A
GA
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1