ArticlePloS one2017
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 42 citations in OpenAlex.
- Clinical practice guideline for aniridia.Japanese journal of ophthalmology · 2026Article
- Article
- A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.Journal of human genetics · 2024Article
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.BMC ophthalmology · 2023Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.Human genomics · 2023Article
- Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.Molecular syndromology · 2022Article
- A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.Frontiers in genetics · 2021Article
- Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management.Frontiers in pediatrics · 2021Article
- Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.Orphanet journal of rare diseases · 2020Article
- The Spectrum ofGenes · 2019Review
- The genetic architecture of aniridia and Gillespie syndrome.Human genetics · 2019Review
- First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.The application of clinical genetics · 2019Article
- Implication of non-coding PAX6 mutations in aniridia.Human genetics · 2018Article
- Aniridia due to a novel microdeletion affectingJournal of genetics · 2018Review
- The genetics of aniridia - simple things become complicated.Journal of applied genetics · 2018Review
- Parental Mosaicism inFrontiers in genetics · 2018Article
- Practical guide to genetic screening for inherited eye diseases.Therapeutic advances in ophthalmologyReview
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus. Our approach increased the detection rate in a Spanish cohort of 38 patients with aniridia, WAGR syndrome and other related ocular malformations, allowing to characterize four undiagnosed aniridia cases, and to confirm MLPA findings in four additional patients. For all patients, breakpoints were accurately established and a contiguous deletion syndrome, involving a large number of genes, was identified in three patients. Moreover, we identified novel microdeletions affecting 3' PAX6 regulatory regions in three families with isolated aniridia. This tool represents a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a more accurate CNVs detection, as well as a better delineation of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns and those without defects in PAX6 after diagnostic screening.
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