ArticleMolecular vision2010
A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.BMC ophthalmology · 2023Article
- A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.BMC ophthalmology · 2021Article
- Novel heterozygous mutation c.4282G>T in theExperimental and therapeutic medicine · 2015Article
- Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.BMC medical genetics · 2013Article
- Mutation analysis of paired box 6 gene in inherited aniridia in northern China.Molecular vision · 2013Article
- A novel PAX6 deletion in a Chinese family with congenital aniridia.Molecular vision · 2012Article
- Genetics of anterior segment dysgenesis disorders.Current opinion in ophthalmology · 2011Review
- Cell proliferation in the absence of E2F1-3.Developmental biology · 2011Article
- Epidemiology and molecular genetics of congenital cataracts.International journal of ophthalmology · 2011Article
- Mutation spectrum of PAX6 in Chinese patients with aniridia.Molecular vision · 2011Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract.
methodsAll patients underwent full ophthalmic examination. For mutation analysis, a partial coding region (exons 5-14) of paired box gene 6 (PAX6) was sequenced with DNA from the proband. Single-strand conformation polymorphism analysis for exon 5 of PAX6 was performed to demonstrate co-segregation of the PAX6 mutation with aniridia in all family members and the absence of the mutation in the normal controls.
resultsThe proband and other patients in the family were affected with aniridia accompanied with congenital cataract. A novel heterozygous PAX6 mutation in exon 5 (c.475_491del17, p.Arg38ProfsX12) was identified, which was predicted to generate a frameshift and create a premature termination codon. This mutation co-segregated with the affected individuals in the family and did not exist in unaffected family members and 100 unrelated normal controls.
conclusionsA novel deletion mutation in the PAX6 gene was identified in a Chinese family with aniridia and congenital cataract. Our study expands the mutation spectrum of PAX6.
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20664694PMC2901194W2124930687What OpenQuestion holds
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