ArticleMolecular vision2007
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
Article in Molecular vision, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Molecular medicine reports · 2023Article
- Whole-exome sequencing identification of a recurrentExperimental and therapeutic medicine · 2021Article
- Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients.Journal of ophthalmology · 2021Article
- Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice.Molecular neurobiology · 2019Article
- Identification of long non-coding RNA and mRNA expression in βΒ2-crystallin knockout mice.Experimental and therapeutic medicine · 2018Article
- 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
- Differentiation of Induced Pluripotent Stem Cells to Lentoid Bodies Expressing a Lens Cell-Specific Fluorescent Reporter.PloS one · 2016Article
- A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.PloS one · 2015Article
- 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
- A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Molecular vision · 2010Article
- Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Molecular vision · 2010Article
- Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.Molecular vision · 2008Article
- A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.Molecular vision · 2008Article
- Congenital cataracts and their molecular genetics.Seminars in cell & developmental biology · 2008Review
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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
purposeThe study demonstrates the functional candidate gene analysis in a cataract family of German descent.
methodsWe screened a German family, clinically documented to have congenital cataracts, for mutation in the candidate genes CRYG (A to D) and CRYBB2 through polymerase chain reaction analyses and sequencing.
resultsCongenital cataract was first observed in a daughter of healthy parents. Her two children (a boy and a girl) also suffer from congenital cataracts and have been operated within the first weeks of birth. Morphologically, the cataract is characterized as nuclear with an additional ring-shaped cortical opacity. Molecular analysis revealed no causative mutation in any of the CRYG genes. However, sequencing of the exons of the CRYBB2 gene identified a sequence variation in exon 5 (383 A>T) with a substitution of Asp to Val at position 128. All three affected family members revealed this change but it was not observed in any of the unaffected persons of the family. The putative mutation creates a restriction site for the enzyme TaiI. This mutation was checked for in controls of randomly selected DNA samples from ophthalmologically normal individuals from the population-based KORA S4 study (n=96) and no mutation was observed. Moreover, the Asp at position 128 is within a stretch of 12 amino acids, which are highly conserved throughout the animal kingdom. For the mutant protein, the isoelectric point is raised from pH 6.50 to 6.75. Additionally, the random coil structure of the protein between the amino acids 126-139 is interrupted by a short extended strand structure. In addition, this region becomes hydrophobic (from neutral to +1) and the electrostatic potential in the region surrounding the exchanged amino acid alters from a mainly negative potential to an enlarged positive potential.
conclusionsThe D128V mutation segregates only in affected family members and is not seen in representative controls. It represents the first mutation outside exon 6 of the human CRYBB2 gene.
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17653036PMC2774456W2153395803What OpenQuestion holds
Registered trials
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