ArticleInvestigative ophthalmology & visual science2014
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- Review
- Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network.Frontiers in genetics · 2025Article
- Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.JCI insight · 2024Article
- A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
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- Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.International journal of molecular sciences · 2022Article
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- Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families withTranslational vision science & technology · 2020Article
- Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.Journal of Korean medical science · 2019Article
- Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2019Article
- Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.Journal of translational medicine · 2018Article
- C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Photoreceptor Guanylate Cyclase (Frontiers in molecular neuroscience · 2018Article
- The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.The Journal of biological chemistry · 2016Article
- Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.Investigative ophthalmology & visual science · 2016Article
- Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).Human molecular genetics · 2016Article
- GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.Documenta ophthalmologica. Advances in ophthalmology · 2015Article
- Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Human mutation · 2015Article
- Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.Molecular vision · 2015Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeThe Israeli population has a unique genetic make-up, with a high prevalence of consanguineous marriages and autosomal recessive diseases. In rod-dominated phenotypes, disease-causing genes and mutations that differ from those identified in other populations often are incurred. We used whole exome sequencing (WES) to identify genetic defects in Israeli families with cone-dominated retinal phenotypes.
methodsClinical analysis included family history, detailed ocular examination, visual function testing, and retinal imaging. Whole exome sequencing, followed by segregation analysis, was performed in 6 cone-dominated retinopathy families in which prior mutation analysis did not reveal the causative gene. Based on the WES findings, we screened 106 additional families with cone-dominated phenotypes.
resultsThe WES analysis revealed mutations in known retinopathy genes in five of the six families: two pathogenic mutations in the GUCY2D gene in three families, and one each in CDHR1 and C8orf37. Targeted screening of additional cone-dominated families led to identification of GUCY2D mutations in four other families, which included two highly probable novel disease-causing variants.
conclusionsOur study suggested that GUCY2D is a major cause of autosomal dominant cone and cone-rod dystrophies in Israel; this is similar to other Caucasian populations and is in contrast with retinitis pigmentosa (primary rod disease), where the genetic make-up of the Israeli population is distinct from other ethnic groups. We also conclude that WES permits more comprehensive and rapid analyses that can be followed by targeted screens of larger samples to delineate the genetic structure of retinal disease in unique population cohorts.
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