ArticleMolecular vision2008
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Human Crystallin Variation and Cataract.Investigative ophthalmology & visual science · 2026Review
- A Combined NMR and SAXS Analysis of the Partially Folded Cataract-Associated V75D γD-Crystallin.Biophysical journal · 2017Article
- Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Scientific reports · 2016Article
- A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.International journal of medical sciences · 2014Article
- Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children.Journal of biomarkers · 2013Article
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
- Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.Molecular vision · 2012Article
- Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.Molecular vision · 2012Article
- A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.Molecular vision · 2011Article
- A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family.Molecular vision · 2011Article
- Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.Molecular vision · 2011Article
- Separating instability from aggregation propensity in γS-crystallin variants.Biophysical journal · 2011Article
- The congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregation.PloS one · 2011Article
- Sodium 4-phenylbutyrate ameliorates the effects of cataract-causing mutant gammaD-crystallin in cultured cells.Molecular vision · 2010Article
- A novel human CRYGD mutation in a juvenile autosomal dominant cataract.Molecular vision · 2010Article
- Advancement of congenital cataract in the responsible gene.International journal of ophthalmology · 2010Article
- A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.Molecular vision · 2009Article
- Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.Molecular vision · 2009Article
- The structure of the cataract-causing P23T mutant of human gammaD-crystallin exhibits distinctive local conformational and dynamic changes.Biochemistry · 2009Article
- Protein-protein interactions and lens transparency.Experimental eye research · 2008Review
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital coralliform cataracts and demonstrate the functional analysis of a candidate gene in the family.
methodsFamily history data were recorded. Clinical and ophthalmologic examinations were performed on affected and unaffected family members. All the members were genotyped with microsatellite markers at loci considered to be associated with cataracts. Two-point LOD scores were calculated using the Linkage software after genotyping. A mutation was detected by direct sequencing, using gene-specific primers. Wild-type and mutant proteins were analyzed with online software.
resultsAffected members of this family had coralliform cataracts. Linkage analysis was obtained at markers, D2S72 (LOD score [Z]=3.31, recombination fraction [theta]=0.0) and D2S1782 (Z=3.01, theta=0.0). Haplotype analysis indicated that the cataract gene was closely linked to these two markers. Sequencing the gammaD-crystallin gene (CRYGD) revealed a G>T transversion in exon 2, which caused a conservative substitution of Gly to Cys at codon 61 (P.G61C). This mutation co-segregated with the disease phenotype in all affected individuals and was not observed in any of the unaffected or 100 normal, unrelated individuals. Bioinformatic analyses showed that a highly conserved region was located around Gly61. Data generated with online software revealed that the mutation altered the protein's stability, solvent-accessibility, and interactions with other proteins.
conclusionsThis is the first reported case of a congenital coralliform cataract phenotype associated with the mutation of Gly61Cys (P.G61C) in the CRYGD gene; it demonstrates a possible mechanism of action for the mutant gene.
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18334953PMC2268897W1563277093What OpenQuestion holds
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.