ArticleJournal of ophthalmology2019
Identification of a Heterozygous Mutation in the
Article in Journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Novel compound heterozygous variants in theFrontiers in cell and developmental biology · 2023Article
- Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Journal of cellular and molecular medicine · 2021Article
- Novel compound heterozygous mutations in theAnnals of translational medicine · 2021Article
- Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.BMC medical genomics · 2021Article
- Genetic Analysis and Literature Review ofFrontiers in aging neuroscience · 2021Article
- NovelJournal of ophthalmology · 2021Article
- Extended Study ofFrontiers in neurology · 2020Article
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
BACKGROUND/
aimsCorneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers. So far, mutations in several genes have been responsible for various CDs. The purpose of this study is to identify gene mutations in a three-generation Hui-Chinese family associated with granular corneal dystrophy type I (GCD1).
methodsA three-generation Hui-Chinese pedigree with GCD1 was recruited for this study. Slit-lamp biomicroscopy, optical coherence tomography, and confocal microscopy were performed to determine the clinical features of available members. Whole exome sequencing was performed on two patients to screen for potential disease-causing variants in the family. Sanger sequencing was used to test the variant in the family members.
resultsClinical examinations demonstrated bilaterally abundant multiple grayish-white opacities in the basal epithelial and superficial stroma layers of corneas of the two patients. Whole exome sequencing revealed that a heterozygous missense mutation (c.1663C > T, p.Arg555Trp) in the transforming growth factor beta-induced gene (
conclusionsThe results suggested that the heterozygous
Identifiers
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Registered trials
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