ArticleJournal of medical genetics2003
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
44 citing papers in PubMed, 96 citations in OpenAlex.
- A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.Molecular and cellular biochemistry · 2012Trial
- Mutation screening of γ-crystallin gene in congenital cataract patients from North India.Indian journal of ophthalmology · 2026Article
- Case Report: Identification of aFrontiers in medicine · 2026Article
- Cataract-prone variants of γD-crystallin populate a conformation with a partially unfolded N-terminal domain under native conditions.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Orphanet journal of rare diseases · 2023Article
- A mutatedInternational journal of ophthalmology · 2021Article
- Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Scientific reports · 2017Article
- A Combined NMR and SAXS Analysis of the Partially Folded Cataract-Associated V75D γD-Crystallin.Biophysical journal · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.PLoS genetics · 2016Article
- Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Scientific reports · 2016Article
- A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.PloS one · 2015Article
- Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.Eye (London, England) · 2014Article
- Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.Molecular and cellular biochemistry · 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
- Study of the γD-crystallin protein using two-dimensional infrared (2DIR) spectroscopy: experiment and simulation.The journal of physical chemistry. B · 2013Article
- Article
- Racial differences in lens opacity incidence and progression: the Salisbury Eye Evaluation (SEE) study.Investigative ophthalmology & visual science · 2013Article
- Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children.Journal of biomarkers · 2013Article
- The human crystallin gene families.Human genomics · 2012Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction theta=0) was obtained for marker D2S2208 near the gamma-crystallin gene (CRYG) cluster. Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family. This mutation resulted in a proline to threonine substitution at amino acid 23 of the protein in the first of the four Greek key motifs that characterise this protein. We show that although the x ray crystallography modelling does not indicate any change of the backbone conformation, the mutation affects a region of the Greek key motif that is important for determining the topology of this protein fold. Our data suggest strongly that the proline to threonine substitution may alter the protein folding or decrease the thermodynamic stability or solubility of the protein. Furthermore, this is the first report of a mutation in this gene resulting in autosomal dominant congenital cerulean cataracts.
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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.