ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 42 citations in OpenAlex.
- CLUAP1 variants cause non-syndromic retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Structure Makes a Difference: IFT Complex in Ciliary Function and Ciliopathy.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026Review
- Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning.Human mutation · 2026Article
- Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.Human molecular genetics · 2024Article
- Systematic assessment of the contribution of structural variants to inherited retinal diseases.Human molecular genetics · 2023Article
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- On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Review
- Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.Frontiers in genetics · 2021Article
- Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.Frontiers in medicine · 2021Review
- Review: Intraflagellar transport proteins in the retina.Molecular vision · 2020Review
- Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in theFrontiers in genetics · 2020Article
- 661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies.Frontiers in genetics · 2019Article
- Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.Human molecular genetics · 2018Article
- NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.Experimental eye research · 2018Article
- CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement.Molecular & cellular proteomics : MCP · 2018Article
- Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Molecular genetics and genomics : MGG · 2018Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
purposeLeber congenital amaurosis (LCA) is an early-onset form of retinal degeneration. Six of the 22 known LCA genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA genes, the genetic basis of ~30% of LCA patients remains unknown. We sought to investigate the cause of disease in the remaining 30% by examining cilia-associated genes.
methodsWhole-exome sequencing was performed on an LCA cohort of 212 unsolved probands previously screened for mutations in known retinal-disease genes. Immunohistochemistry using mouse retinas was used to confirm protein localization and zebrafish were used to perform rescue experiments.
resultsA homozygous nonsynonymous mutation was found in a single proband in CLUAP1, a gene required for ciliogenesis and cilia maintenance. Cluap1 knockout zebrafish exhibit photoreceptor cell death as early as 5 days after fertilization, and rescue experiments revealed that our proband's mutation is significantly hypomorphic.
conclusionConsistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate LCA gene.Genet Med 18 10, 1044-1051.
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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.