ArticleMolecular vision2009
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
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 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Plasma Proteomics Identifies Proteins and Pathways Associated with Cataract: A Prospective Cohort Study.Ophthalmology science · 2026Article
- Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Molecular medicine reports · 2023Article
- Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.Experimental and therapeutic medicine · 2018Article
- Identification of long non-coding RNA and mRNA expression in βΒ2-crystallin knockout mice.Experimental and therapeutic medicine · 2018Article
- 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
- 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
- Article
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
- Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.Molecular vision · 2012Article
- Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.Molecular vision · 2011Article
- Epidemiology and molecular genetics of congenital cataracts.International journal of ophthalmology · 2011Article
- A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.Molecular vision · 2010Article
- Advancement of congenital cataract in the responsible gene.International journal of ophthalmology · 2010Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the causative genetic mutation among the known cataract candidate genes underlying the observed phenotype in a Basotho family, with congenital nuclear cataracts.
methodsBecause of the small family size, we used the functional candidate gene analysis approach. We screened a Basotho family, clinically documented to have congenital nuclear cataracts, for mutation in the candidate genes CRYG (C & D; Crystallin, gamma C and Crystallin, gamma D), GJA8 (Gap junction protein, alpha 8), CRY (AA & AB; Crystallin, alpha A and Crystallin, alpha B), CRYBA (Crystallin, beta A) and CRY (BB1 & BB2; Crystallin, beta B1 and Crystallin, beta B2) through polymerase chain reaction analyses and sequencing.
resultsMutation screening identified only one significant alteration in exon 6 (607G>A) of CRYBB2, with a substitution of Valine to Methionine at position 187. This mutation segregated in all five affected family members but it was not observed in any of the unaffected persons of the family. The putative mutation led also to the appearance of a new NIaIII restriction site in the samples of the affected family members that was not present in 100 randomly selected DNA samples from ophthalmologically normal individuals and in 40 unrelated senile cataract patients of the same ethnic background as the family members.
conclusionsThis study identified a missense mutation in CRYBB2 in a family of Basotho with autosomal dominant congenital cataract (ADCC). In summary, we believe this new missense allele is the probable causative molecular lesion for the observed phenotype in this family.
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19649175PMC2718852W2163915398What OpenQuestion holds
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