ArticleMolecular vision2008
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary 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 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Physiological and pathological functions of βB2-crystallins in multiple organs: a systematic review.Aging · 2021Pooled it
- Three Novel Mutations of Microphthalmos Identified in Two Chinese Families.Phenomics (Cham, Switzerland) · 2022Article
- Whole-exome sequencing identification of a recurrentExperimental and therapeutic medicine · 2021Article
- Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients.Journal of ophthalmology · 2021Article
- PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.Molecular medicine reports · 2019Article
- Mutation profiles of congenital cataract genes in 21 northern Chinese families.Molecular vision · 2018Article
- Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.Scientific reports · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.BMC ophthalmology · 2016Article
- 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
- Congenital cataracts: de novo gene conversion event in CRYBB2.Molecular vision · 2014Article
- A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.PloS one · 2014Article
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
- Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.Molecular vision · 2011Article
- Mutation analysis of 12 genes in Chinese families with congenital cataracts.Molecular vision · 2011Article
- A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.Molecular vision · 2011Article
- A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Molecular vision · 2010Article
- Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Molecular vision · 2010Article
- A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.Molecular vision · 2010Article
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
purposeWe sought to identify the genetic defect in a large, five-generation Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts and to examine the clinical features in detail.
methodsClinical and ophthalmologic examinations were conducted on family members. All members were genotyped with microsatellite markers at loci previously associated with cataracts. Two-point LOD scores were calculated using a linkage package after genotyping. A mutation was detected by direct sequencing and verified by denaturing high-performance liquid chromatography (DHPLC).
resultsClinical observations showed that all affected family members had progressive polymorphic coronary cataracts. Linkage analysis was obtained at markers, D22S303 (LOD score [Z]=2.11, recombination fraction [theta]=0.0) and D22S1167 (Z=1.20, theta=0.0). Haplotype analysis indicated that the cataract gene was closely linked with these two markers. Sequencing the betaB-crystallin gene (CRYBB2) revealed a C --> T transition in exon 6, which changed a codon from Gln to a stop codon (P.Q155X). This mutation cosegregated with all affected individuals and was not observed in any unaffected family member or 100 normal, unrelated individuals.
conclusionsThis study identified a mutation in CRYBB2 in a large Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts. These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition.
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Identifiers
18449377PMC2335123W2140127501What 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.