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| Amyotrophic lateral sclerosis/motor neuron disease v1.39 | SOD1 | Ivone Leong Phenotypes for gene: SOD1 were changed from Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 1, 105400; amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis 1, OMIM:105400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.38 | SOD1 | Ivone Leong Publications for gene: SOD1 were set to 23687121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.37 | SOD1 |
Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal". PMID: 7647793 identified homozygous variants in SOD1 in 14 affected people from 4 unrelated families (some were consanguineous) from Sweden or Finland with ALS. All affected individuals are homozgyous for the the same variant (D90A). Heterozygous carriers were not affected. PMID: 9817920 studied 28 pedigrees with D90A from around the world. The authors found that 20 recessive familes have the same founder haplotype as PMID:7647793, regardless of location, and that heterozygous carriers in these families were also unaffected. In the dominant families, 5 were sporadic (no family history of ALS) and 3 were familial and several founders existed for these families. This study shows that D90A can cause disease in a dominant fashion just like all other SOD1 variants. Recessive inheritance of ALS caused by D90A has also been reported in families from Russia, Germany, Iran, Italy, France, Australia, Canada, and US (PMID: 18608106, 10809943, 12442272, 11284995, 11127534, 23062701). PMID: 11220750 identified a French family with ALS, where the affected individuals were compound heterozygous for D90A and D96N in SOD1. |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.37 | SOD1 | Ivone Leong Mode of inheritance for gene: SOD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||