ArticleJournal of ophthalmology2017
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome.
Article in Journal of ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 34 citations in OpenAlex.
- Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.Journal of clinical medicine · 2024Article
- Article
- A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.BMC medical genomics · 2021Article
- Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.BMC ophthalmology · 2021Article
- Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulateThe Journal of biological chemistry · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings.
methodsNine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found.
resultsThrough the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. The mutation (c.-10-30T>C) was identified in PITX2 in subjects III-1 and III-3.
conclusionsWe found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.
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Registered trials
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