OMIM 137070
Amyotrophic Lateral Sclerosis 6
Lattante et al. (2013) provided a review of FUS mutations associated with amyotrophic lateral sclerosis (ALS6; 608030). FUS mutations occur in about 5% of patients with familial ALS and in 1% of patients with sporadic disease.
137070.0001 AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE FUS, HIS517GLN rs121909667
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.
| 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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