ArticleAmerican journal of human genetics2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing.Biochemical genetics · 2026Article
- Multi-locus genetic dosage shapes cognitive disease progression in Parkinson's patients: 15-year meta-analysis of 24 cohorts.NPJ Parkinson's disease · 2026Article
- Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.Human mutation · 2026Article
- Genotype-phenotype correlations in Chinese patients with congenital stationary night blindness and early-onset high myopia: evidence from electrophysiology and whole-exome sequencing.International journal of ophthalmology · 2026Article
- Machine Learning Identifies Key Gene Markers Related to Fetal Retina Development at Single-Cell Transcription Level.Investigative ophthalmology & visual science · 2025Article
- Associations between RetNet gene polymorphisms and the efficacy of orthokeratology for myopia control: a retrospective clinical study.Eye and vision (London, England) · 2025Article
- Worldwide study of the taste of bitter medicines and their modifiers.Chemical senses · 2025Article
- Dynamic changes in the transcriptome and metabolome of pig ovaries across developmental stages and gestation.BMC genomics · 2024Article
- Novel Variants Linked to the Prodromal Stage of Parkinson's Disease (PD) Patients.Diagnostics (Basel, Switzerland) · 2024Article
- Worldwide study of the taste of bitter medicines and their modifiers.bioRxiv : the preprint server for biology · 2024Article
- Gene knockout of RNA binding motif 5 in the brain alters RIMS2 protein homeostasis in the cerebellum and Hippocampus and exacerbates behavioral deficits after a TBI in mice.Experimental neurology · 2024Article
- Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.Life science alliance · 2023Article
- Ribbon Synapses and Retinal Disease: Review.International journal of molecular sciences · 2023Review
- Article
- Electronegative electroretinogram in the modern multimodal imaging era.Clinical & experimental ophthalmology · 2022Article
- Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.Eye (London, England) · 2021Review
- Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.Human molecular genetics · 2021Article
- Optic Atrophy and Inner Retinal Thinning inGenes · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
22 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual. RIMS2 regulates synaptic membrane exocytosis. Data mining of human adult bulk and single-cell retinal transcriptional datasets revealed predominant expression in rod photoreceptors, and immunostaining demonstrated RIMS2 localization in the human retinal outer plexiform layer, Purkinje cells, and pancreatic islets. Additionally, nonsense variants were shown to result in truncated RIMS2 and decreased insulin secretion in mammalian cells. The identification of a syndromic stationary congenital IRD has a major impact on the differential diagnosis of syndromic congenital IRD, which has previously been exclusively linked with degenerative IRD.
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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.