ArticleJournal of ophthalmology2022
Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.
Article in Journal of ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.Molecular vision · 2025Article
- Targeted next-generation sequencing analysis in Italian patients with keratoconus.Eye (London, England) · 2024Article
- Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.Genes · 2023Article
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
aimTo identify novel mutations in keratoconus (KC) susceptibility genes in the Chinese Han population.
methodsA total of fifty-two patients with primary KC were recruited. Blood samples were collected, and genomic DNA was isolated from peripheral blood leukocytes. The entire coding region, intron-exon junctions, and promoter regions of sixteen known KC susceptibility genes were screened with next-generation sequencing technology. All identified variants were further confirmed using the Sanger sequencing technology. The Sorting Intolerant from Tolerant (SIFT), MutationTaster, and PolyPhen 2 programs were used to predict the effect of amino acid substitution on protein.
resultsAfter removing twelve known SNPs (single nucleotide polymorphisms) and three variants predicted to be harmless, nine novel mutations were identified in eight of the fifty-two patients, including c.455C > T:p.P152L in FNDC3B; c.3636_3637del:p.R1212fs in COL4A4; c.5015G > T:p.R1672L, c.3798dupA:p.P1267fs, and c.28G > A:p.A10T in MPDZ; c.1940C > T:p.P647L in DOCK9; c.127_128insGGC:p.Q43delinsRQ in POLG; c.3019G > A:p.V1007I in IPO5; and c.624 + 7- > A in TGFBI. All nine mutations in the patients with KC were heterozygote.
conclusionThis study enlarged the gene profile of KC and should be further confirmed by well-powered, genome-wide association studies (GWAS) of Han Chinese patients.
Identifiers
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Registered trials
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