ArticleMolecular vision2009
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
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 19 papers.
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
- Human Crystallin Variation and Cataract.Investigative ophthalmology & visual science · 2026Review
- Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Genes & genomics · 2024Article
- NovelInternational journal of molecular sciences · 2023Article
- A Novel Mutation inOphthalmology science · 2022Article
- Case Report: AFrontiers in genetics · 2022Article
- Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.Molecular syndromology · 2020Article
- Congenital cataract - clinical and morphological aspects.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie · 2020Article
- Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.Scientific reports · 2017Article
- A novel truncation mutation inMolecular vision · 2017Article
- Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.Molecular vision · 2017Article
- Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.Molecular vision · 2013Article
- A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.Molecular vision · 2012Article
- Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.American journal of human genetics · 2011Article
- Article
- Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.Molecular vision · 2011Article
- Mutation analysis of 12 genes in Chinese families with congenital cataracts.Molecular vision · 2011Article
- Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.Molecular vision · 2011Article
- A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.Molecular vision · 2010Article
- Advancement of congenital cataract in the responsible gene.International journal of ophthalmology · 2010Article
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 report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea.
methodsWe investigated a four-generation Chinese family with six members affected with nuclear cataracts and microcornea. The family resides in a relatively isolated region of northern China. Genomic DNA was isolated from blood leucocytes, genotyping was performed using more than 100 microsatellite markers for the known cataract candidate gene loci, and LOD scores were calculated using the LINKAGE programs. Mutations were detected by DNA sequence analysis of the candidate genes.
resultsEvidence for linkage was detected at marker D2S325 (LOD score [Z]=2.29, recombination fraction [theta]=0.0), which closely flanks the gamma-crystallin gene cluster (CRYGA-CRYGD) on chromosome 2q32.3-q35. Direct sequencing of the candidate CRYGA-CRYGD gene cluster revealed a c.470G>A transversion in exon 3 of CRYGC, which cosegregated with cataracts in the family and was not observed in 100 normal controls. This single nucleotide change was predicted to introduce a translation stop codon at tryptophan 157 (W157X).
conclusionsThe present study has identified a novel nonsense mutation in CRYGC associated with autosomal dominant cataracts and microcornea in a Chinese family. Our finding expands the spectrum of CRYGC mutations associated with congenital cataract and confirms the role of gamma-crystallin in the pathogenesis of congenital nuclear cataracts.
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Identifiers
19204787PMC2635849W1500687994What 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.