ArticleMolecular vision2012
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Emerging Trends and Research Foci in Cataract Genes: A Bibliometric and Visualized Study.Frontiers in genetics · 2021Pooled it
- Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.International journal of molecular sciences · 2023Article
- Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Molecular medicine reports · 2023Article
- Whole-exome sequencing identification of a recurrentExperimental and therapeutic medicine · 2021Article
- Congenital Cataract and Its Genetics: The Era of Next-Generation SequencingTurkish journal of ophthalmology · 2021Review
- Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.Molecular genetics & genomic medicine · 2021Article
- Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients.Journal of ophthalmology · 2021Article
- Broadening the Mutation Spectrum inFrontiers in medicine · 2021Article
- Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice.Molecular neurobiology · 2019Article
- Bidirectional Analysis of Cryba4-Crybb1 Nascent Transcription and Nuclear Accumulation of Crybb3 mRNAs in Lens Fibers.Investigative ophthalmology & visual science · 2019Article
- 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
- BetaB2-crystallin mutations associated with cataract and glaucoma leads to mitochondrial alterations in lens epithelial cells and retinal neurons.Experimental eye research · 2017Article
- 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 Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.PloS one · 2015Article
- MyD88 Polymorphisms and Association with Susceptibility to Salmonella Pullorum.BioMed research international · 2015Article
- A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.PloS one · 2014Article
- Article
- Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.Molecular vision · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the genetic defect in a four-generation Croatian family presenting with autosomal dominant cataract.
methodsGenome-wide linkage analysis with 250K single nucleotide polymorphism (SNP) arrays was performed using DNA from one unaffected and seven affected individuals. Mutation screening of candidate genes was performed by bidirectional Sanger sequencing.
resultsEvidence for linkage was observed for eight genomic regions. Among these was a locus on chromosome 22 which encompasses the β-crystallin gene cluster. This cluster includes four genes, namely beta-crystallin B1 (CRYBB1), beta-crystallin B2 (CRYBB2), beta-crystallin B3 (CRYBB3), and beta-crystallin A4 (CRYBA4). A novel sequence variant was found in the CRYBB2 gene (p.Arg188His). This variant cosegregated with the disease phenotype in all affected individuals but was not present in the unaffected family members and 100 healthy control subjects.
conclusionsWe report a novel missense mutation, p.Arg188His, in CRYBB2 associated with congenital cataract in a family of Croatian origin. This variant is the most COOH-terminal missense mutation in CRYBB2 that has been identified so far.
Indexed as
Identifiers
22312185PMC3272051W58167902What 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.