ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 42 citations in OpenAlex.
- Lurcher Mouse as a Model of Cerebellar Syndromes.Cerebellum (London, England) · 2025Review
- Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.Human molecular genetics · 2024Article
- Mycoplasma DnaK increases DNA copy number variants in vivo.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Population genomics of an icefish reveals mechanisms of glacier-driven adaptive radiation in Antarctic notothenioids.BMC biology · 2022Article
- Transcriptomic and Behavioral Studies of Small Yellow Croaker (Animals : an open access journal from MDPI · 2022Article
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- Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.Pharmacological reviews · 2021Review
- Structural biology and thermodynamics of GluD receptors.Neuropharmacology · 2021Review
- Cryo-EM structures of the ionotropic glutamate receptor GluD1 reveal a non-swapped architecture.Nature structural & molecular biology · 2020Article
- Heterozygous Meg2 Ablation Causes Intraocular Pressure Elevation and Progressive Glaucomatous Neurodegeneration.Molecular neurobiology · 2019Article
- Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient.Clinical case reports · 2019Article
- Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Scientific reports · 2018Article
- Purkinje Cell Signaling Deficits in Animal Models of Ataxia.Frontiers in synaptic neuroscience · 2018Review
- Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.BMC medical genetics · 2017Article
- Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.American journal of human genetics · 2017Article
- The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region.Scientific reports · 2017Article
- Lessons learned from additional research analyses of unsolved clinical exome cases.Genome medicine · 2017Article
- A GluD Coming-Of-Age Story.Trends in neurosciences · 2017Review
- Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Frontiers in molecular neuroscience · 2017Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe aim of this study was to identify the genetic cause of early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy in a consanguineous family.
methodsAn affected 6-month-old child underwent neurological and ophthalmological examinations. Genetic analyses included homozygosity mapping, copy number analysis, conventional polymerase chain reaction, Sanger sequencing, quantitative polymerase chain reaction, and whole-exome sequencing. Expression analysis of GRID2 was performed by quantitative polymerase chain reaction and immunohistochemistry.
resultsA homozygous deletion of exon 2 of GRID2 (p.Gly30_Glu81del) was identified in the proband. GRID2 encodes an ionotropic glutamate receptor known to be selectively expressed in cerebellar Purkinje cells. Here, we demonstrated GRID2 expression in human adult retina and retinal pigment epithelium. In addition, Grid2 expression was demonstrated in different stages of murine retinal development. GRID2 immunostaining was shown in murine and human retina. Whole-exome sequencing in the proband did not provide arguments for other disease-causing mutations, supporting the idea that the phenotype observed represents a single clinical entity.
conclusionWe identified GRID2 as an underlying disease gene of early-onset autosomal recessive cerebellar ataxia with retinal dystrophy, expanding the clinical spectrum of GRID2 deletion mutants. We demonstrated for the first time GRID2 expression and localization in human and murine retina, providing evidence for a novel functional role of GRID2 in the retina.
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