ArticleMolecular vision2012
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 3 citations in OpenAlex.
- Clinical practice guideline for aniridia.Japanese journal of ophthalmology · 2026Article
- Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a NovelJournal of ophthalmology · 2018Article
- A novel duplication in the PAX6 gene in a North Indian family with aniridia.International ophthalmology · 2014Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeHaplo-insufficiency at the paired box gene 6 (PAX6) locus causes aniridia,which is characterized by iris hypoplasia and other anterior and posterior eye defects leading to poor vision. This study aimed to identify novel PAX6 mutations that lead to familial and sporadic aniridia in northeastern China.
methodsTwo aniridia patients from a family and a sporadic patient underwent full ophthalmologic examinations. Genomic DNA was isolated from the affected individuals, 5 noncarriers in the family and 100 healthy normal controls. The coding regions and the adjacent intronic sequence of PAX6 were amplified by polymerase chain reaction (PCR) and direct bidirectional sequencing.
resultsA nonsense mutation in exon 9 (c.718C>T) was identified in the patients but not in any other unaffected families. A C>T substitution at codon 240 converts an arginine codon (CGA) to a termination codon (TGA).The same mutation was detected in the sporadic patient by chance.
conclusionsA mutation in the PAX6 gene was confirmed to be capable of causing the classic aniridia phenotype. This is the first report on the "hotspot" c.718C>T transition from northeastern Chinese families.
Indexed as
Identifiers
22815628PMC3398500W1957712280What OpenQuestion holds
Registered trials
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