ArticleHuman genetics2021
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- Photostimulation improves maturation of human photoreceptors.Nature communications · 2026Article
- Munc18-1 is crucial for photoreceptor function, survival and regulation of syntaxin-3 localization and expression.Scientific reports · 2026Article
- Multimodal AI fuses proteomic and EHR data for rational prioritization of protein biomarkers in diabetic retinopathy.medRxiv : the preprint server for health sciences · 2026Article
- Super-resolution microscopy reveals a Rab6a-dependent trafficking hub for rhodopsin at the mammalian rod photoreceptor Golgi.Biology open · 2025Article
- Super-resolution microscopy reveals a Rab6a-dependent trafficking hub for rhodopsin at the mammalian rod photoreceptor Golgi.bioRxiv : the preprint server for biology · 2025Article
- BBSome-Mediated Clearance of Ubiquitinated IMPG2 Defines a Constitutive Ciliary Retrieval Pathway in Photoreceptors.bioRxiv : the preprint server for biology · 2025Article
- The Plus End-Directed Microtubule (Kinesin-3 Family) Motor Protein KIF13B Is Associated with the Photoreceptor Synaptic Ribbon Complex.International journal of molecular sciences · 2025Article
- Congenital enteropathy caused by ezrin deficiency.Human genetics · 2025Article
- Microvillus inclusion disease: a short review of literature.Gastroenterology and hepatology from bed to bench · 2025Article
- Syntaxin 3B: A SNARE Protein Required for Vision.International journal of molecular sciences · 2024Review
- Presynaptic Proteins and Their Roles in Visual Processing by the Retina.Annual review of vision science · 2024Review
- THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration.Nucleic acids research · 2024Article
- SNAP-25, but not SNAP-23, is essential for photoreceptor development, survival, and function in mice.Communications biology · 2024Article
- The role of syntaxins in retinal function and health.Frontiers in cellular neuroscience · 2024Review
- Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.Genome medicine · 2023Article
- Increased STX3 transcript and protein levels were associated with poor prognosis in two independent cohorts of esophageal squamous cell carcinoma patients.Cancer medicine · 2023Article
- Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Proteomic analysis of diabetic retinas.Frontiers in endocrinology · 2023Article
Corrections and comments
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Authors and funding
25 authors at 14 institutions in 6 countries.
Funding
Abstract
Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten individuals of diverse geographic origin with biallelic STX3 loss-of-function variants, identified through exome sequencing, single-nucleotide polymorphism array-based homozygosity mapping, and international collaboration. The evaluated individuals all presented with MVID. Eight individuals also displayed early-onset severe retinal dystrophy, i.e., syndromic-intestinal and retinal-disease. These individuals harbored STX3 variants that affected both the retinal and intestinal STX3 transcripts, whereas STX3 variants affected only the intestinal transcript in individuals with solitary MVID. That STX3 is essential for retinal photoreceptor survival was confirmed by the creation of a rod photoreceptor-specific STX3 knockout mouse model which revealed a time-dependent reduction in the number of rod photoreceptors, thinning of the outer nuclear layer, and the eventual loss of both rod and cone photoreceptors. Together, our results provide a link between STX3 loss-of-function variants and a human retinal dystrophy. Depending on the genomic site of a human loss-of-function STX3 variant, it can cause MVID, the novel intestinal-retinal syndrome reported here or, hypothetically, an isolated retinal dystrophy.
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