ArticleMolecular vision2010
A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Emerging Trends and Research Foci in Cataract Genes: A Bibliometric and Visualized Study.Frontiers in genetics · 2021Pooled it
- A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.BMC ophthalmology · 2025Article
- Congenital Cataract and Its Genetics: The Era of Next-Generation SequencingTurkish journal of ophthalmology · 2021Review
- Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.Molecular syndromology · 2020Article
- The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.BMC medical genetics · 2019Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- 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
- 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
- A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.International journal of medical sciences · 2014Article
- Article
- A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.Molecular vision · 2013Article
- Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.PloS one · 2013Article
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
- A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.Molecular vision · 2012Article
- A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.Molecular vision · 2012Article
- Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.Molecular vision · 2012Article
- A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.Molecular vision · 2011Article
- Mutation analysis of 12 genes in Chinese families with congenital cataracts.Molecular vision · 2011Article
- A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts.
methodsFamily history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation.
resultsLens examination in the affected members revealed childhood cataracts along with progressive developing fetal nuclear lactescent cataracts with 'Y' sutural opacities, and also progressive developing peripheral cortical opacities. Direct gene sequencing showed a G>A transition at the donor splice site of intron 3 (IVS3+1 G>A) of the βA1/A3-crystallin gene (CRYBA3/A1) in this Chinese autosomal dominant childhood cataract family, and the maximum heterogeneity logarithm of odds (HLOD) score obtained by multi-point analysis was detected at marker locus D17S1800 (HLOD=3.005; α=1.000).
conclusionsTo our knowledge, this is the first report of a phenotype of progressive nuclear and cortical cataracts related to the CRYBA3/A1 mutation IVS3+1 G>A. This finding expands the spectrum of cataract phenotypes caused by the IVS3+1 G>A mutation of CRYBA3/A1, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the cataractogenesis in different ethnic backgrounds.
Indexed as
Identifiers
21139983PMC2994768W177050820What 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.