ArticleMolecular vision2008
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
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 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Article
- Temporal Transcriptomic Profiling of the DevelopingbioRxiv : the preprint server for biology · 2024Article
- Mutation screening of crystallin genes in Chinese families with congenital cataracts.Molecular vision · 2019Article
- Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.European journal of human genetics : EJHG · 2017Article
- Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.Molecular syndromology · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- A novel truncation mutation inMolecular vision · 2017Article
- Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).Transactions of the American Ophthalmological Society · 2015Article
- Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.Scientific reports · 2014Article
- 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
- Article
- A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Molecular vision · 2010Article
- Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.Molecular vision · 2009Article
- A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.Molecular vision · 2009Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the molecular defect underlying an autosomal dominant congenital nuclear cataract in a Chinese family.
methodsTwenty-two members of a three-generation pedigree were recruited, clinical examinations were performed, and genomic DNA was extracted from peripheral blood leukocytes. All members were genotyped with polymorphic microsatellite markers adjacent to each of the known cataract-related genes. Linkage analysis was performed after genotyping. Candidate genes were screened for mutation using direct sequencing. Individuals were screened for presence of a mutation by restriction fragment length polymorphism (RFLP) analysis.
resultsLinkage analysis identified a maximum LOD score of 3.31 (recombination fraction [theta]=0.0) with marker D22S1167 on chromosome 22, which flanks the beta-crystallin gene cluster (CRYBB3, CRYBB2, CRYBB1, and CRYBA4). Sequencing the coding regions and the flanking intronic sequences of these four candidate genes identified a novel, heterozygous C-->T transition in exon 6 of CRYBB1 in the affected individuals of the family. This single nucleotide change introduced a novel BfaI site and was predicted to result in a nonsense mutation at codon 223 that changed a phylogenetically conserved amino acid to a stop codon (p.Q223X). RFLP analysis confirmed that this mutation co-segregated with the disease phenotype in all available family members and was not found in 100 normal unrelated individuals from the same ethnic background.
conclusionsThis study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract.
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18432316PMC2324115W1541251778What OpenQuestion holds
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