ArticleMolecular vision2009
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
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 16 papers.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.Molecular and cellular biochemistry · 2012Trial
- Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country.Korean journal of ophthalmology : KJO · 2023Article
- Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Orphanet journal of rare diseases · 2023Article
- Modeling congenital cataract in vitro using patient-specific induced pluripotent stem cells.NPJ Regenerative medicine · 2021Article
- Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Scientific reports · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Scientific reports · 2016Article
- Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.BMC medical genetics · 2013Article
- Article
- Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses.Human genomics · 2012Article
- Hereditary pediatric cataract on the Arabian Peninsula.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2012Article
- Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.Molecular vision · 2012Article
- A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.European journal of human genetics : EJHG · 2011Article
- A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families.Molecular vision · 2011Article
- The congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregation.PloS one · 2011Article
- A novel human CRYGD mutation in a juvenile autosomal dominant cataract.Molecular vision · 2010Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo assess for gammaD-crystallin (CRYGD) mutation in 2 Saudi patients with cerulean cataract and in a brother of one of the patients who had coralliform cataract.
methodsPatients and all of their available relatives underwent ophthalmic examination and subsequent sequencing of the candidate gene CRYGD.
resultsIn the first family, a 4-year-old boy with bilateral cerulean cataract and his 6-year-old brother with similar bluish lens discoloration but in a coralliform pattern were heterozygous for the p.P23T CRYGD mutation. Their father and 2 older brothers, all of whom underwent childhood cataract surgery, also harbored the mutation while the 2 asymptomatic immediate family members did not. In the second family, a 7-year-old girl with bilateral cerulean cataract was heterozygous for the same CRYGD mutation. Details of her family history were limited. The patients in the two families shared a common disease haplotype.
conclusionsThis first report of p.P23T CRYGD mutation underlying cerulean cataract in the Saudi population strongly supports the mutation's relation with the phenotype. Coralliform cataract can represent variable expressivity for the same mutation rather than a distinct entity.
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Identifiers
19633732PMC2714775W2133781088What OpenQuestion holds
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