ArticleHuman genetics2018
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- Primary and motile cilia in the efferent ductules: a role for IFT88 in maintaining male fertility.Cellular and molecular life sciences : CMLS · 2026Article
- Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.Investigative ophthalmology & visual science · 2026Article
- Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Ciliary and Non-Ciliary Roles of IFT88 in Development and Diseases.International journal of molecular sciences · 2025Review
- Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.Acta neuropathologica communications · 2025Article
- IFT88 maintains sensory function by localising signalling proteins alongLife science alliance · 2024Article
- Primary cilia are critical for tracheoesophageal septation.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Article
- Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.Scientific reports · 2022Article
- Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.NPJ genomic medicine · 2022Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- Divergent and self-reactive immune responses in the CNS of COVID-19 patients with neurological symptoms.Cell reports. Medicine · 2021Article
- Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.Human mutation · 2021Article
- Exploratory neuroimmune profiling identifies CNS-specific alterations in COVID-19 patients with neurological involvement.bioRxiv : the preprint server for biology · 2020Article
- DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Review: Intraflagellar transport proteins in the retina.Molecular vision · 2020Review
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Authors and funding
20 authors at 9 institutions in 3 countries.
Funding
Abstract
Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the intraflagellar transport protein-88 (IFT88) gene segregating with IRD. Expression of IFT88 with the p.Arg266* and p.Ala568Thr mutations in mIMDC3 cells by transient transfection and in HeLa cells by introducing the mutations using CRISPR-cas9 system suggested that both mutations result in the formation of abnormal ciliary structures. The introduction of the IFT88 p.Arg266* variant in the homozygous state in HeLa cells by CRISPR-Cas9 genome-editing revealed that the mutant transcript undergoes nonsense-mediated decay leading to a significant depletion of IFT88 transcript. Additionally, abnormal ciliogenesis was observed in these cells. These observations suggest that the rare and unique combination of IFT88 alleles observed in this study provide insight into the physiological role of IFT88 in humans and the likely mechanism underlying retinal pathology in the pedigree with IRD.
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Registered trials
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