ArticleMolecular genetics & genomic medicine2022
Quadruple genetic variants in a sporadic ALS patient.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Multiple Roles for Neuregulins and Their v-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog Receptors in Neurodegenerative Disease Pathogenesis and Therapy.The American journal of pathology · 2025Review
- Genetic analysis ofFrontiers in aging neuroscience · 2025Article
- Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.Brain communications · 2023Article
- Quadruple genetic variants in a sporadic ALS patient.Molecular genetics & genomic medicine · 2022Article
- A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk geneFrontiers in molecular neuroscience · 2022Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesDue to upcoming gene-specific therapy approaches for ALS patients, understanding familial and sporadic ALS genetics is becoming increasingly important. In this study, we wanted to investigate underlying genetic causes for an SALS patient.
methodsWe performed ALS gene panel sequencing and subsequent segregation analysis in the family.
resultsGenetic studies suggest that a proportion of SALS cases has an oligogenic origin due to the combination of low-effect size mutations in several ALS genes. Maximally three mutations in different ALS disease genes have been described in isolated ALS patients. Here, we report for the first time the co-occurrence of rare nonsynonymous variants in four known ALS genes in a SALS patient (c.859G > A/p.Gly287Ser in TARDBP, c.304G > T/p.Glu102* in NEK1, c.3446C > A/p.Gly1149Val in ERBB4, and c.1015C > T/p.Arg339Trp in VEGFA). All four variants were unique for the patient, whereas up to three of these variants were detected in the unaffected family members, all older than the patient. DISCUSSION: Our study suggests that SALS can be caused by the additive or synergistic action of low-effect size mutations. Broader use of gene panel analysis or whole exome/genome sequencing may reveal a potentially treatable oligogenic causation in a higher percentage of SALS than previously thought.
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