ArticleMolecular vision2011
Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract 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 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Physiological and pathological functions of βB2-crystallins in multiple organs: a systematic review.Aging · 2021Pooled it
- Multi-omics integration predicts the incidence of 17 diseases in the UK Biobank.Nature communications · 2026Article
- Multi-omics integration predicts 17 disease incidences in the UK Biobank.medRxiv : the preprint server for health sciences · 2025Article
- Characterization of βB2-crystallin tryptophan mutants reveals two different folding states in solution.Protein science : a publication of the Protein Society · 2024Article
- ATCUN-like Copper Site in βB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation.Inorganic chemistry · 2023Article
- Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.Scientific reports · 2017Article
- A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma.Journal of clinical & experimental ophthalmology · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.Molecular syndromology · 2016Article
- A NovelJournal of ophthalmology · 2016Article
- A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.International journal of ophthalmology · 2015Article
- Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.BMC medical genetics · 2013Article
- A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.International journal of ophthalmology · 2013Article
- Article
- A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.Molecular vision · 2013Article
- The human crystallin gene families.Human genomics · 2012Review
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
- The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin.PloS one · 2012Article
- Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.Molecular vision · 2012Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital posterior subcapsular cataracts.
methodsClinical data from patients in the family were recorded by slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of the pedigree members. Mutation screening was performed in the candidate gene by bidirectional sequencing of the amplified products. The mutation was verified by restriction fragment length polymorphism (RFLP) analysis.
resultsThe congenital cataract phenotype of the pedigree was identified as posterior subcapsular by slit-lamp photography. Sequencing of the candidate genes detected a heterozygous c.5C→T change in the coding region of the βB2-crystallin gene (CRYBB2), resulting in the substitution of a highly conserved alanine to valine (p. A2V). All nine family members affected with cataracts were positive for this change, but it was not observed in any of the unaffected members of the family. The transition resulted in the loss of a HaeIII restriction site in the affected members of the pedigree, which was present in the unaffected family members and in all of the 100 unrelated individuals tested.
conclusionsThis study has identified a novel CRYBB2 gene mutation, resulting in the amino substitution p. A2V in a Chinese family with posterior subcapsular congenital cataracts. This mutation is probably the causative lesion for the observed phenotype in this family.
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21245961PMC3021577W1798758515What OpenQuestion holds
Registered trials
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