ArticleNPJ genomic medicine2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoids.Journal of cell science · 2026Article
- The EH-binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunction.Journal of cell science · 2026Article
- Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.NPJ genomic medicine · 2026Article
- Article
- A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.Human molecular genetics · 2025Article
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Inpp5e is crucial for photoreceptor outer segment maintenance.Journal of cell science · 2025Article
- Regulation of INPP5E in Ciliogenesis, Development, and Disease.International journal of biological sciences · 2025Review
- Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.Advances in experimental medicine and biology · 2025Article
- A novel homozygous nonsense variant inOphthalmic genetics · 2024Article
- Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.European journal of human genetics : EJHG · 2024Article
- Inpp5e Regulated the Cilium-Related Genes Contributing to the Neural Tube Defects Under 5-Fluorouracil Exposure.Molecular neurobiology · 2024Article
- Novel variants identified in five Chinese families with Joubert Syndrome: a case report.BMC medical genomics · 2023Article
- Clinical characteristics of high myopia in female carriers of pathogenicOphthalmic genetics · 2023Review
- Article
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
Corrections and comments
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Authors and funding
26 authors at 9 institutions in 5 countries.
Funding
Abstract
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has not been made. We validate this association by reporting 16 non-syndromic IRD patients from ten families with bi-allelic mutations in INPP5E. Additional two patients showed early onset IRD with limited JBTS features. Detailed phenotypic description for all probands is presented. We report 14 rare INPP5E variants, 12 of which have not been reported in previous studies. We present tertiary protein modeling and analyze all INPP5E variants for deleteriousness and phenotypic correlation. We observe that the combined impact of INPP5E variants in JBTS and non-syndromic IRD patients does not reveal a clear genotype-phenotype correlation, suggesting the involvement of genetic modifiers. Our study cements the wide phenotypic spectrum of INPP5E disease, adding proof that sequence defects in this gene can lead to early-onset non-syndromic IRD.
Identifiers
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Registered trials
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.