ArticleAmerican journal of human genetics2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 49 citations in OpenAlex.
- Two Secondary Introductions From a Shared Bridgehead Population Show Evidence of Divergent and Parallel Selection.Molecular ecology · 2026Article
- Characterization of Rcbtb1 Knockout Mice and Evaluation of AAV2-RCBTB1 Gene Replacement Therapy.Translational vision science & technology · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Dynamic allelic expression in mouse mammary glands across the adult developmental cycle.Nucleic acids research · 2025Article
- Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.Investigative ophthalmology & visual science · 2025Article
- Case report: A novel intronicFrontiers in genetics · 2025Article
- Research Progress on the Role of Ubiquitination in Eye Diseases.Cell biochemistry and biophysics · 2024Review
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.European journal of human genetics : EJHG · 2023Article
- Article
- NovelOphthalmic genetics · 2022Article
- Interactome and evolutionary conservation of Dictyostelid small GTPases and their direct regulators.Small GTPases · 2022Article
- Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium.Journal of cellular and molecular medicine · 2021Article
- NovelJournal of ophthalmology · 2021Article
- Genetics of human female infertility†.Biology of reproduction · 2019Review
- Monomethyl Fumarate Protects the Retina From Light-Induced Retinopathy.Investigative ophthalmology & visual science · 2019Article
- Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.Human molecular genetics · 2018Article
- Chromosomal instability in women with primary ovarian insufficiency.Human reproduction (Oxford, England) · 2018Article
- Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.Endocrine reviews · 2018Review
- arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
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Authors and funding
25 authors at 10 institutions in 7 countries.
Funding
Abstract
Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr), in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. Subsequent analysis of WES data in different cohorts uncovered four additional homozygous missense mutations in five unrelated families in whom iRD segregates with or without syndromic features. Ocular phenotypes ranged from typical RP starting in the second decade to chorioretinal dystrophy with a later age of onset. The five missense mutations affect highly conserved residues either in the sixth repeat of the RCC1 domain or in the BTB1 domain. A founder haplotype was identified for mutation c.919G>A (p.Val307Met), occurring in two families of Mediterranean origin. We showed ubiquitous mRNA expression of RCBTB1 and demonstrated predominant RCBTB1 localization in human inner retina. RCBTB1 was very recently shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor. Therefore, the effect on different components of the CUL3 and NFE2L2 (NRF2) pathway was assessed in affected individuals' lymphocytes, revealing decreased mRNA expression of NFE2L2 and several NFE2L2 target genes. In conclusion, our study puts forward mutations in RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic iRD. Finally, our data support a role for impaired ubiquitination in the pathogenetic mechanism of RCBTB1 mutations.
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