ArticleBMC ophthalmology2021
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.
Article in BMC ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Versatile and efficient mammalian genome editing with Type I-C CRISPR System of Desulfovibrio vulgaris.Science China. Life sciences · 2024Article
- Shotgun metagenomics reveals the gut microbial diversity and functions inFrontiers in microbiology · 2024Article
- A rare missenseInternational journal of ophthalmology · 2024Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.BMC ophthalmology · 2022Article
- Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese Family.Frontiers in genetics · 2022Article
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
backgroundThe aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.
methodsComplete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, anterior segment photography, and anterior segment optical coherence tomography (OCT) were performed. Blood samples were collected from all family members and genomic DNA was extracted. Genome sequencing was performed in all family members and Sanger sequencing was used to verify variant breakpoints.
resultsAll the thirteen members in this Chinese family, including seven patients and six normal people, were recruited in this study. The ophthalmic examination of affected patients in this family was consistent with congenital aniridia combined with cataract and nystagmus. A novel heterozygous deletion (NC_000011.10:g.31802307_31806556del) containing the 5' region of PAX6 gene was detected that segregated with the disease.
conclusionWe detected a novel deletion in PAX6 responsible for congenital aniridia in the affected individuals of this Chinese family. The novel 4.25 kb deletion in PAX6 gene of our study would further broaden the genetic defects of PAX6 associated with congenital aniridia.
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