ArticleMolecular vision2018
Mutation profiles of congenital cataract genes in 21 northern Chinese families.
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 26 citations in OpenAlex.
- Exploiting autophagy and related pathways: pioneering new horizons in cataract therapy.Apoptosis : an international journal on programmed cell death · 2025Review
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Identification of mutations associated with congenital cataracts in nineteen Chinese families.BMC ophthalmology · 2025Article
- NovelInternational journal of ophthalmology · 2024Article
- Mutational spectrum in a Chinese cohort with congenital cataracts.Molecular genetics & genomic medicine · 2023Article
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?American journal of ophthalmology · 2023Observational
- Charged multivesicular body protein 4b forms complexes with gap junction proteins during lens fiber cell differentiation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- Review
- Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts.Children (Basel, Switzerland) · 2022Article
- Genomic analysis of the endosomal sorting required for transport complex III pathway genes as therapeutic and prognostic biomarkers for endometrial carcinoma.Translational cancer research · 2022Article
- Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.Eye (London, England) · 2022Article
- A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.BMC ophthalmology · 2022Article
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- Article
- A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts.Scientific reports · 2021Article
- Broadening the Mutation Spectrum inFrontiers in medicine · 2021Article
- The relationship between major intrinsic protein genes and cataract.International ophthalmology · 2021Review
- Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Cataract: Surgery first - is there still room for basic research?Advances in ophthalmology practice and researchReview
- A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation.Differentiation; research in biological diversityArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To identify disease-causing gene mutations in 21 northern Chinese families with congenital cataracts. Methods: Medical record collection and ophthalmologic examinations were conducted for 21 families with congenital cataracts. A volume of 5 ml of peripheral blood was drawn from each participant for genomic DNA isolation. Thirty-four known candidate genes for congenital cataracts were analyzed in the probands of 21 families with targeted next-generation sequencing (NGS). Bioinformatics analysis of the sequence variants was performed through computational predictive programs. Sanger sequencing was used to perform the cosegregation analysis. Genotyping and haplotype analyses were performed in two patients with a p.V44M mutation in the Results: Twelve disease-causing mutations were detected in 13 of the 21 patients, and the mutation detection rate was 61.9%. The 12 gene mutations included one nonsense, one splice site, seven missense, and three insert and deletion (INDELs) mutations. Four mutations were novel. Of the 13 patients with pathogenic gene mutations, five (38.5%) were affected by mutations in lens crystallin genes, three (23%) were affected by mutations in connexin genes, three (23%) were affected by mutations in transcription factor genes, one (7.7%) was affected by a mutation in a transmembrane transporter gene, and one (7.7%) was affected by a mutation in a chromatin-modifying protein gene. Two families carried the p.V44M mutation in the Conclusions: Compared with traditional Sanger sequencing, targeted NGS for genetic testing of congenital cataracts markedly increases the mutation detection rate and is cost-effective. The p.V44M mutation in the
Indexed as
Identifiers
30078984PMC6054834W2945887078What 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.