| Causing ALS AMYOTROPHIC LATERAL SCLEROSIS |
| Geno
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Mag
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Summary
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| (C;C)
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0
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common in clinvar
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| (G;G)
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6
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Causing ALS AMYOTROPHIC LATERAL SCLEROSIS
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AMYOTROPHIC LATERAL SCLEROSIS 6
In 4 affected members of a consanguineous family with amyotrophic lateral sclerosis-6 (ALS6; 608030), Kwiatkowski et al. (2009) identified a homozygous 1551C-G transversion in exon 15 of the FUS gene, resulting in a his517-to-gln (H517Q) substitution. The family originated from Cape Verde, a small island off the western coast of Africa. Three asymptomatic family members were also homozygous for the mutation, but all were younger than the mean age at disease onset of 45 years. The mutation was not detected in 1,446 control DNA samples from North America; 1 heterozygote was observed in 132 chromosomes from Cape Verde.
