ArticleMolecular genetics & genomic medicine2019
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome.European journal of medical genetics · 2023Article
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- 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
- Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.Investigative ophthalmology & visual science · 2021Article
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders.Life (Basel, Switzerland) · 2021Article
- A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.Clinical genetics · 2021Article
- Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.Investigative ophthalmology & visual science · 2020Article
- A novel SVA retrotransposon insertion in theOphthalmic genetics · 2020Article
- LINE-1 ORF1p does not determine substrate preference for human/orangutan SVA and gibbon LAVA.Mobile DNA · 2020Article
- Review
- Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of the 21 identified genes. Documented causative mutation types include missense, nonsense, copy number variation (CNV), frameshift deletions or insertions, and splicing variants.
methodsWhole genome sequencing was performed on a patient affected with BBS for whom no mutations were identified using clinically approved genetic testing of the known genes. Analysis of the WGS was done using internal protocols and publicly available algorithms. The phenotype was defined by retrospective chart review.
resultsWe document a female affected with BBS carrying the most common BBS1 mutation (BBS1: Met390Arg) on the maternal allele and an insertion of a ~1.7-kb retrotransposon in exon 13 on the paternal allele. This retrotransposon insertion was not automatically annotated by the standard variant calling protocols used. This novel variant was identified by visual inspection of the alignment file followed by specific genome analysis with an available algorithm for transposable elements.
conclusionThis report documents a novel mutation type associated with BBS and highlights the importance of systematically performing transposon detection analysis on WGS data of unsolved cases.
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