ArticleOrphanet journal of rare diseases2016
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- TDP-43: [GU]-ardian of the transcriptome.Molecular neurodegeneration · 2026Review
- Leveraging protein language models and a scoring function for indel characterization and transfer learning.Patterns (New York, N.Y.) · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.Human mutation · 2026Article
- Identification and mechanism determination of the efflux pump subunit amrB gene mutations linked to gentamicin susceptibility in clinical Burkholderia pseudomallei from Malaysian Borneo.Molecular genetics and genomics : MGG · 2024Article
- Review: Cancer and neurodevelopmental disorders: multi-scale reasoning and computational guide.Frontiers in cell and developmental biology · 2024Review
- Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.Scientific reports · 2023Article
- Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.Current issues in molecular biology · 2023Article
- SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants.Briefings in bioinformatics · 2023Article
- Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.The Journal of molecular diagnostics : JMD · 2022Article
- The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.BMC medical genetics · 2019Article
- In-Frame Indel Mutations in the Genome of the Blind Mexican Cavefish, Astyanax mexicanus.Genome biology and evolution · 2019Article
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12 authors.
Funding
Abstract
backgroundAlthough the majority of small in-frame insertions/deletions (indels) has no/little affect on protein function, a small subset of these changes has been causally associated with genetic disorders. Notably, the molecular mechanisms and frequency by which they give rise to disease phenotypes remain largely unknown. The aim of this study is to provide insights into the role of in-frame indels (≤21 nucleotides) in two genetically heterogeneous eye disorders.
resultsOne hundred eighty-one probands with childhood cataracts and 486 probands with retinal dystrophy underwent multigene panel testing in a clinical diagnostic laboratory. In-frame indels were collected and evaluated both clinically and in silico. Variants that could be modeled in the context of protein structure were identified and analysed using integrative structural modeling. Overall, 55 small in-frame indels were detected in 112 of 667 probands (16.8 %); 17 of these changes were novel to this study and 18 variants were reported clinically. A reliable model of the corresponding protein sequence could be generated for 8 variants. Structural modeling indicated a diverse range of molecular mechanisms of disease including disruption of secondary and tertiary protein structure and alteration of protein-DNA binding sites.
conclusionsIn childhood cataract and retinal dystrophy subjects, one small in-frame indel is clinically reported in every ~37 individuals tested. The clinical utility of computational tools evaluating these changes increases when the full complexity of the involved molecular mechanisms is embraced.
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