ArticleMolecular vision2009
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.Molecular and cellular biochemistry · 2012Trial
- Human Crystallin Variation and Cataract.Investigative ophthalmology & visual science · 2026Review
- A mutatedInternational journal of ophthalmology · 2021Article
- Mutation ofFrontiers in cell and developmental biology · 2020Article
- Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.Journal of ophthalmology · 2020Article
- Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.Scientific reports · 2017Article
- Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Scientific reports · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Scientific reports · 2016Article
- Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.Eye (London, England) · 2014Article
- A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.International journal of medical sciences · 2014Article
- Coarse-grained model for colloidal protein interactions, B(22), and protein cluster formation.The journal of physical chemistry. B · 2013Article
- Article
- Comparative proteomics analysis of degenerative eye lenses of nocturnal rice eel and catfish as compared to diurnal zebrafish.Molecular vision · 2013Article
- 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
- 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
- Phosphoproteomics characterization of novel phosphorylated sites of lens proteins from normal and cataractous human eye lenses.Molecular vision · 2011Article
- The congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregation.PloS one · 2011Article
Corrections and comments
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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
purposeTo identify the genetic lesions for congenital coralliform cataract.
methodsTwo Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screened by two-point linkage analysis with gene based single nucleotide polymorphisms and microsatellite markers. Sequence variations were identified. Recombinant FLAG-tagged wild type or mutant gammaD-crystallin was expressed in human lens epithelial cells and COS-7 cells. Protein solubility and intracellular distribution were analyzed by western blotting and immunofluorescence, respectively.
resultsA novel heterozygous change, c.43C>A (R15S) of gammaD-crystallin (CRYGD) co-segregated with coralliform cataract in one family and a known substitution, c.70C>A (P24T), in the other family. Unaffected family members and 103 unrelated control subjects did not carry these mutations. Similar to the wild type protein, R15S gammaD-crystallin was detergent soluble and was located in the cytoplasm. ProtScale and ScanProsite analyses revealed raised local hydrophobicity and the creation of a hypothetical casein kinase II phosphorylation site.
conclusionsA novel R15S mutation caused congenital coralliform cataract in a Chinese family. R15S possessed similar properties to the wild type gammaD-crystallin, but its predicted increase of hydrophobicity and putative phosphorylation site could lead to protein aggregation, subsequently causing opacification in lens.
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Identifiers
19668596PMC2722711W2123895337What OpenQuestion holds
Registered trials
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