ArticleClinical genetics2021
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Article in Clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- In Silico identification of a common mobile element insertion in exon 4 of RP1.Scientific reports · 2021Trial
- Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.Mobile DNA · 2024Article
- Characterisation of a LINE-1 Insertion in theHuman mutation · 2024Article
- Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex.Frontiers in cell and developmental biology · 2024Article
- Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.American journal of medical genetics. Part A · 2023Article
- WGS Revealed NovelInternational journal of molecular sciences · 2023Article
- Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.Cold Spring Harbor perspectives in medicine · 2023Review
- Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease.Experimental biology and medicine (Maywood, N.J.) · 2022Article
- Mechanisms of disease-associated SINE-VNTR-Alus.Experimental biology and medicine (Maywood, N.J.) · 2022Review
- Review
- Characterisation of the Function of a SINE-VNTR-Frontiers in molecular neuroscience · 2022Article
- A case of Bardet-Biedl syndrome caused by a recurrent variant inBiomedical reports · 2021Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.Nucleic acids research · 2021Article
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression.NPJ Parkinson's disease · 2021Article
- Long-Read Sequencing to Unravel Complex Structural Variants ofFrontiers in cell and developmental biology · 2021Article
- Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet-Biedl Syndrome.Nature and science of sleep · 2021Article
- Exploring the Spectrum of Kidney Ciliopathies.Diagnostics (Basel, Switzerland) · 2020Review
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 5 countries.
Funding
Abstract
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid-specific SINE-R/VNTR/Alu type F (SVA-F) insertion in exon 13 of BBS1 in eight families. In six families, the repeat insertion was found in trans with c.1169 T > G, p.Met390Arg and in two families the insertion was found in addition to other recessive BBS loci. Whole genome sequencing, de novo assembly and SNP array analysis were performed to characterize the genomic event. This insertion is extremely rare in the general population (found in 8 alleles of 8 BBS cases but not in >10 800 control individuals from gnomAD-SV) and due to a founder effect. Its 2435 bp sequence contains hallmarks of LINE1 mediated retrotransposition. Functional studies with patient-derived cell lines confirmed that the BBS1 SVA-F is deleterious as evidenced by a significant depletion of both mRNA and protein levels. Such findings highlight the importance of dedicated bioinformatics pipelines to identify all types of variation.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.