ArticleMolecular vision2012
A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.
Article in Molecular vision, 2012. 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.
- Human Crystallin Variation and Cataract.Investigative ophthalmology & visual science · 2026Review
- Structure and function of mouse lens suture examined by 2-photon fluorescence microscopic imaging.Scientific reports · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.BMC research notes · 2016Article
- Regulation of αA- and αB-crystallins via phosphorylation in cellular homeostasis.Cellular and molecular life sciences : CMLS · 2015Review
- A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.PloS one · 2015Article
- A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.PloS one · 2014Article
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 the genetic defect in a three-generation Chinese family with congenital cataracts.
methodsThe phenotype of a three-generation Chinese family with congenital cataracts was recruited. Detailed family history and clinical data of the family were recorded. Candidate gene sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of the mutant gene.
resultsThe phenotype of the family was identified as Y-suture cataract by using slit-lamp photography. Direct sequencing revealed a c.161G>C transversion in exon 1 of crystallin, alpha A (CRYAA). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54P caused an increase in local hydrophobicity around the substitution site.
conclusionsThis study identified a novel disease-causing mutation c.161G>C (p.R54P) in CRYAA in a Chinese family with autosomal dominant Y-suture cataracts. This is the first report relating a G→C mutation in CRYAA leading to congenital Y-suture cataract.
Indexed as
Identifiers
23288997PMC3534140W1513201250What OpenQuestion holds
Registered trials
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