ArticleMolecular vision2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.Human genetics · 2013Trial
- The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.Journal of clinical medicine · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.BMC genomics · 2021Article
- Intrauterine Cataract Diagnosis and Follow-upTurkish journal of ophthalmology · 2020Article
- Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.European journal of human genetics : EJHG · 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
- Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.Biochimica et biophysica acta · 2016Article
- Long Noncoding RNA-Directed Epigenetic Regulation of Gene Expression Is Associated With Anxiety-like Behavior in Mice.Biological psychiatry · 2015Article
- 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 C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.Molecular vision · 2014Article
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
- Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.Investigative ophthalmology & visual science · 2011Article
- Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.Ophthalmology · 2011Article
- NovelSNPer: A Fast Tool for the Identification and Characterization of Novel SNPs and InDels.Advances in bioinformatics · 2011Article
- Mutation analysis of 12 genes in Chinese families with congenital cataracts.Molecular vision · 2011Article
- Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.Molecular vision · 2011Article
- A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children.
methodsAn autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to detect regions of homozygosity. Subsequently good candidate genes were screened for mutations by direct sequencing.
resultsThe SNP microarray data demonstrated a 24.96 Mb region of homozygosity at 22q11.21-22q13.2 which was confirmed by microsatellite marker analysis. The candidate target region contained the beta-crystallin gene cluster and direct sequencing in affected family members revealed a novel mutation in CRYBB1 (c.2T>A; p.Met1Lys).
conclusionsTo our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract.
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Registered trials
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