ArticleScientific reports2015
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Targeted Sequencing and Meta-Analysis of Preterm Birth.PloS one · 2016Pooled it
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- An Effective DNA Methylation Biomarker Screening Mechanism for Amyotrophic Lateral Sclerosis (ALS) Based on Comorbidities and Gene Function Analysis.Bioengineering (Basel, Switzerland) · 2024Article
- Identifying dysregulated regions in amyotrophic lateral sclerosis through chromatin accessibility outliers.HGG advances · 2024Article
- Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
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- A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.Acta neuropathologica communications · 2022Article
- Contribution ofFrontiers in psychiatry · 2022Article
- A CRMP4-dependent retrograde axon-to-soma death signal in amyotrophic lateral sclerosis.The EMBO journal · 2021Article
- Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.Journal of neurology · 2021Article
- Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?Molecular brain · 2021Article
- A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of CaMolecular brain · 2020Article
- Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.Nucleic acids research · 2020Article
- Genetic T-type calcium channelopathies.Journal of medical genetics · 2020Review
- Intricacies of aetiology in intrafamilial degenerative disease.Brain communications · 2020Review
- Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.Cold Spring Harbor molecular case studies · 2019Article
- Molecular Mechanisms of Primary Aldosteronism.Endocrinology and metabolism (Seoul, Korea) · 2019Review
- Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.Channels (Austin, Tex.) · 2019Article
- The role of de novo mutations in adult-onset neurodegenerative disorders.Acta neuropathologica · 2019Review
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The contribution of genetic variants to sporadic amyotrophic lateral sclerosis (ALS) remains largely unknown. Either recessive or de novo variants could result in an apparently sporadic occurrence of ALS. In an attempt to find such variants we sequenced the exomes of 44 ALS-unaffected-parents trios. Rare and potentially damaging compound heterozygous variants were found in 27% of ALS patients, homozygous recessive variants in 14% and coding de novo variants in 27%. In 20% of patients more than one of the above variants was present. Genes with recessive variants were enriched in nucleotide binding capacity, ATPase activity, and the dynein heavy chain. Genes with de novo variants were enriched in transcription regulation and cell cycle processes. This trio study indicates that rare private recessive variants could be a mechanism underlying some case of sporadic ALS, and that de novo mutations are also likely to play a part in the disease.
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