ArticleMolecular vision2011
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
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- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Scientific reports · 2017Article
- Animal modelling for inherited central vision loss.The Journal of pathology · 2016Review
- Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.Molecular vision · 2016Article
- GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.Documenta ophthalmologica. Advances in ophthalmology · 2015Article
- Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Investigative ophthalmology & visual science · 2014Article
- Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.Documenta ophthalmologica. Advances in ophthalmology · 2013Article
- Gene therapy for retinal disease.Translational research : the journal of laboratory and clinical medicine · 2013Review
- Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy.PloS one · 2013Article
- Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.PloS one · 2013Article
- A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.Molecular vision · 2013Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients.
methodsGenomic DNA and clinical data were collected from the family. Genome-wide linkage analysis was performed to map the disease locus, and Sanger dideoxy sequencing was used to detect the mutation in a candidate gene.
resultsInitially, genome-wide linkage analysis mapped the disease to 17p13.1 between D17S831 and D17S799, with a maximum lod score of 2.71 for D17S938 and D17S1852 at theta=0. Sequence analysis of the guanylate cyclase 2D gene (GUCY2D) in the linkage interval detected a recurrent heterozygous mutation, c.2513G>A (p.Arg838His). This mutation was present in all eight patients with adCOD, but neither in any of the six unaffected family members nor in 192 control chromosomes.
conclusionsadCOD in this family is caused by a recurrent mutation in GUCY2D. adCOD can be detected in the first few years after birth in the family by fundus observation and electroretinogram recordings.
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Identifiers
22194653PMC3244478W1513014158What OpenQuestion holds
Registered trials
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