ArticleMolecular vision2011
Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.PloS one · 2013Trial
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.BMC ophthalmology · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report.World journal of clinical cases · 2020Article
- Mutation spectrum ofMolecular vision · 2020Article
- Aniridia due to a novel microdeletion affectingJournal of genetics · 2018Review
- The genetics of aniridia - simple things become complicated.Journal of applied genetics · 2018Review
- Involvement of BcElp4 in vegetative development, various environmental stress response and virulence of Botrytis cinerea.Microbial biotechnology · 2017Article
- Screening, genetics, risk factors, and treatment of neonatal cataracts.Birth defects research · 2017Review
- Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Scientific reports · 2017Article
- A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation.Molecular cytogenetics · 2015Article
- 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.Journal of applied genetics · 2013Article
- Mutation analysis of paired box 6 gene in inherited aniridia in northern China.Molecular vision · 2013Article
- Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.Molecular vision · 2013Article
- Crystal structure of elongator subcomplex Elp4-6.The Journal of biological chemistry · 2012Article
- Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.Molecular vision · 2012Article
- 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
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the clinical and genetic findings in two Chinese families with aniridia and other ocular abnormalities.
methodsTwo unrelated families were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Mutation screening of all exons of the PAX6 (paired box gene 6) gene was performed by direct sequencing of PCR-amplified DNA fragments. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect large deletions. Linkage analysis was used to validate the large deletions revealed by MLPA in all available family members.
resultsClinical examination and pedigree analysis revealed one four-generation family (85) and one three- generation family (86) with total aniridia, congenital cataracts, foveal hypoplasia, and glaucoma. No mutation in PAX6 was identified after PCR-sequencing. Through MLPA analysis, a large deletion including the whole PAX6 gene, DKFZp686k1684 (hypothetical LOC440034), and the RCN1 (reticulocalbin 1) gene was detected in family 85; a 3' deletion to the PAX6 gene including the ELP4 (elongator complex protein 4) and the DCDC1 (doublecortin domain containing 1) gene was identified in family 86.The two large deletions were confirmed with linkage analysis and the "loss of heterozygous" in the different PAX6 regions were co-segregated with the phenotype of the two families, respectively.
conclusionsPatients with the PAX6 contiguous gene deletion, including the RCN1 gene, presented more severe vision impairments than those carrying the PAX6 3' deletion. Large deletions may account for several Chinese families and sporadic cases with aniridia and screening for these kinds of alterations should be included in aniridia patients' analyses.
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21364908PMC3044699W1591901996What OpenQuestion holds
Registered trials
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