ArticleBMJ open ophthalmology2022
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Article in BMJ open ophthalmology, 2022. 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, 16 citations in OpenAlex.
- Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.Molecular biology reports · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.Investigative ophthalmology & visual science · 2025Article
- Periaxin gene variants are linked to age-related cataracts in Cx46 deficient lenses.Communications biology · 2025Article
- Intermediate Filament Protein BFSP1 Maintains Oocyte Asymmetric Division by Modulating Spindle Length.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Article
- Differentiation of mesenchymal stem cells towards lens epithelial stem cells based on three-dimensional bio-printed matrix.Frontiers in cell and developmental biology · 2024Article
- NovelInternational journal of ophthalmology · 2024Article
- Effects of truncations in the N- and C-terminal domains of filensin on filament formation with phakinin in cell-free conditions and cultured cells.FEBS open bio · 2023Article
- Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.BMC medical genomics · 2023Article
- Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.International journal of molecular sciences · 2023Article
- Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.G3 (Bethesda, Md.) · 2023Article
- Screening forFrontiers in neurology · 2023Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePaediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variants likely to be causative of disease in an Australian patient cohort. METHODS AND ANALYSIS: Sixty-three reported isolated cataract genes were screened for rare coding variants in 37 Australian families using genome sequencing.
resultsDisease-causing variants were confirmed in eight families with variant classification as 'likely pathogenic'. This included novel variants
conclusionThese findings expand the genotype-phenotype correlations of both pathogenic and benign variation in cataract-associated genes. They further emphasise the need to develop additional evidence such as functional assays and variant classification criteria specific to paediatric cataract genes to improve interpretation of variants and molecular diagnosis in patients.
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