ArticleDisease markers2019
A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree.
Article in Disease markers, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Cohesin composition and dosage independently affect early development in zebrafish.Development (Cambridge, England) · 2024Article
- RAD21 deficiency drives corneal to scleral differentiation fate switching via upregulating WNT9B.iScience · 2024Article
- Enhancer-promoter specificity in gene transcription: molecular mechanisms and disease associations.Experimental & molecular medicine · 2024Review
- The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Article
- Review
- Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.Human genetics · 2020Article
- Genomic instability and eye diseases.Advances in ophthalmology practice and researchReview
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSclerocornea is a rare congenital disorder characterized with the opacification of the cornea. Here, we report a nonconsanguineous Chinese family with multiple peripheral sclerocornea patients spanning across three generations inherited in an autosomal dominant manner.
methodsThis is a retrospective case series of a peripheral sclerocornea pedigree. Comprehensive ophthalmic examinations were conducted and assessed on 14 pedigree members. Whole-exome sequencing was used to identify the genetic alterations in the affected pedigree members. Lymphoblastoid cell lines (LCLs) were established using blood samples from the family members. Functional tests were performed with these cell lines.
resultsSix affected and eight unaffected members of a family with peripheral sclerocornea were examined. All affected individuals showed features of scleralization over the peripheral cornea of both eyes. Mean horizontal and vertical corneal diameter were found significantly decreased in the affected members. Significant differences were also observed on the mean apex pachymetry between affected and unaffected subjects. These ophthalmic parameters did not resemble that of cornea plana. A
conclusionWe report a family of peripheral sclerocornea with no association with cornea plana. A
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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.