ArticleMolecular vision2017
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
Article in Molecular vision, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 29 citations in OpenAlex.
- Identification of mutations associated with congenital cataracts in nineteen Chinese families.BMC ophthalmology · 2025Article
- NovelInternational journal of molecular sciences · 2023Article
- Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.Biomolecules · 2023Article
- Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.BMC ophthalmology · 2023Article
- Interplay between Nrf2 and αB-crystallin in the lens and heart of zebrafish under proteostatic stress.Frontiers in molecular biosciences · 2023Article
- Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.Molecular genetics & genomic medicine · 2022Article
- BMP3 is a novel locus involved in the causality of ocular coloboma.Human genetics · 2022Article
- A Novel Mutation inOphthalmology science · 2022Article
- Literature Review on Artificial Intelligence Methods for Glaucoma Screening, Segmentation, and Classification.Journal of imaging · 2022Review
- Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3.Investigative ophthalmology & visual science · 2022Article
- Case Report: AFrontiers in genetics · 2022Article
- Broadening the Mutation Spectrum inFrontiers in medicine · 2021Article
- Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.Molecular syndromology · 2020Article
- The genetic landscape of crystallins in congenital cataract.Orphanet journal of rare diseases · 2020Article
- The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.BMC ophthalmology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities. Methods: Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed. DNA samples were isolated from peripheral blood collected from the patients. Next-generation sequencing of known ocular genes was applied to the proband of each family and two simplex cases to find pathogenic variances. PCR and Sanger sequencing were conducted for validation and segregation tests. Results: All 13 patients had congenital cataracts, and other ocular abnormalities were found in some cases. Microcornea was found in 12 subjects, and ocular coloboma was observed in five. Various types of coloboma, including iris, choroid, macular, and optic disc, were described. Five mutations in crystallin genes were identified. Four of the mutations are novel: Conclusions: We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. Four novel mutations and one previously reported mutation were identified. These data expand the mutation spectrum in crystallin genes and enhance our understanding of the phenotypes of congenital cataracts.
Indexed as
Identifiers
29386872PMC5757854W2779137623What 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.