ArticleMolecular vision2011
A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease 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 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.BMC ophthalmology · 2025Article
- G91-deletion in βA3/A1-crystallin induces cellular and molecular changes in mouse lenses leading to congenital cataract development.PloS one · 2025Article
- Dysregulation of Autophagy Occurs During Congenital Cataract Development in βA3ΔG91 Mice.Investigative ophthalmology & visual science · 2024Article
- The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.BMC medical genetics · 2019Article
- Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Scientific reports · 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
- Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.BMC medical genetics · 2013Article
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family.
methodsPatients were given a physical examination and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers, and a logarithm of odds (LOD) score was calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing.
resultsLinkage to the crystallin beta A1 (CRYBA1) locus was identified. DNA sequencing of the gene revealed a c.279-281delGAG mutation in exon 4, which resulted in a glycine residue deletion at position 91 (ΔG91). This mutation was identified in all of the affected individuals but was not found in the 100 control chromosomes.
conclusionsOur results identify that the c.279-281delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear cataract disease in this Chinese family.
Indexed as
Identifiers
21686330PMC3115749W2323023736What OpenQuestion holds
Registered trials
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