ArticleMolecular vision2016
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.
Article in Molecular vision, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 59 citations in OpenAlex.
- Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.Molecular genetics & genomic medicine · 2026Article
- Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.Molecular biology reports · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- Analysis of mouse lens morphological and proteomic abnormalities following deletion of the βB3-crystallin promoter.Experimental eye research · 2025Article
- Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.Clinical genetics · 2025Article
- Identification of mutations associated with congenital cataracts in nineteen Chinese families.BMC ophthalmology · 2025Article
- Article
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.Cell biochemistry and biophysics · 2023Article
- NovelInternational journal of molecular sciences · 2023Article
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?American journal of ophthalmology · 2023Observational
- Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.Molecular genetics and genomics : MGG · 2023Article
- Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts.Children (Basel, Switzerland) · 2022Article
- Article
- Pathogenic genetic variants identified in Australian families with paediatric cataract.BMJ open ophthalmology · 2022Article
- A Novel Mutation inOphthalmology science · 2022Article
- EphA2 Affects Development of the Eye Lens Nucleus and the Gradient of Refractive Index.Investigative ophthalmology & visual science · 2022Article
- Case Report: AFrontiers in genetics · 2022Article
- Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study aimed to investigate the genetic effects underlying non-familial sporadic congenital cataract (SCC).
methodsWe collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes with target region capture and next-generation sequencing (NGS). The suspected SCC variants were validated with MassARRAY and Sanger sequencing. DNA samples from 103 healthy subjects were used as additional controls in the confirmation examination.
resultsBy filtering against common variants in public databases and those associated with TC cases, we identified 23 SCC-specific variants in 17 genes from 19 patients, which were predicted to be functional. These mutations were further confirmed by examination of the 103 healthy controls. Among the mutated genes, CRYBB3 had the highest mutation frequency with mutations detected four times in four patients, followed by EPHA2, NHS, and WDR36, the mutation of which were detected two times in two patients. We observed that the four patients with CRYBB3 mutations had three different cataract phenotypes.
conclusionsFrom this study, we concluded the clinical and genetic heterogeneity of SCC. This is the first study to report broad spectrum genotyping for patients with SCC.
Indexed as
Identifiers
27307692PMC4896834W2409094710What 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.