ArticleMolecular vision2010
A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
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 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.PloS one · 2012Pooled it
- Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Three Blind Moles: Molecular Evolutionary Insights on the Tempo and Mode of Convergent Eye Degeneration inGenes · 2023Article
- Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family.Frontiers in genetics · 2022Article
- Article
- Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families.Experimental and therapeutic medicine · 2019Article
- Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.Experimental and therapeutic medicine · 2018Article
- High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.G3 (Bethesda, Md.) · 2017Article
- Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.European journal of human genetics : EJHG · 2017Article
- Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).BMC medical genetics · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Associations betweenClinical ophthalmology (Auckland, N.Z.) · 2017Article
- Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.Molecular vision · 2017Article
- Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.BMC research notes · 2016Article
- SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.European journal of human genetics : EJHG · 2015Article
- Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.Eye (London, England) · 2014Article
- The human crystallin gene families.Human genomics · 2012Review
- 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
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify mutations in a Chinese family with congenital cataract and microcornea.
methodsDetailed family history and clinical data were recorded. Genomic DNA was extracted from leukocytes of venous blood of the patients and noncarriers in this family along with 100 normal individuals. All six exons of crystallin, beta A4 gene (CRYBA4) were amplified by PCR methods and direct sequencing.
resultsWe identified a c.225G>T sequence change that led to an amino acid substitution G64W in the CRYBA4-induced protein in two patients of this family; this nucleotide substitution was not detected in the other individuals.
conclusionsA novel missense mutation in CRYBA4 was identified in our study. It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea.
Indexed as
Identifiers
20577656PMC2890555W134170438What 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.