ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 31 citations in OpenAlex.
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.International journal of molecular sciences · 2023Article
- Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports.Journal of medical case reports · 2018Review
- Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.PloS one · 2017Article
- Genetic Advances in Microphthalmia.Journal of pediatric genetics · 2016Review
- Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.Clinical genetics · 2015Article
- Whole-genome copy number variation analysis in anophthalmia and microphthalmia.Clinical genetics · 2013Article
- ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.Human molecular genetics · 2013Article
- Congenital abnormalities of the optic nerve: from gene mutation to clinical expression.Current neurology and neuroscience reports · 2013Review
- Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.American journal of medical genetics. Part A · 2012Article
- Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.European journal of human genetics : EJHG · 2012Article
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Human mutation · 2012Article
- Less expression of prohibitin is associated with increased paired box 2 (PAX2) in renal interstitial fibrosis rats.International journal of molecular sciences · 2012Article
- Renal coloboma syndrome.European journal of human genetics : EJHG · 2011Review
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
Abstract
purposeThe goal of our study was to determine whether genomic copy number abnormalities (deletions and duplications) affecting genes involved in eye development contributed to the etiology of anophthalmia, microphthalmia, and coloboma.
methodsThe affected individuals were evaluated for the presence of deletions and duplications in genomic DNA by a very high-resolution array comparative genomic hybridization.
resultsArray analysis of 32 patients detected one case with a deletion encompassing the renal-coloboma syndrome associated gene PAX2. Nonpolymorphic copy number changes were also observed at several candidate chromosomal regions, including 6p12.3, 8q23.1q23.2, 13q31.3, 15q11.2q13.1, 16p13.13, and 20q13.13.
conclusionsThis study identified the first patient with the typical phenotype of the renal-coloboma syndrome caused by a submicroscopic deletion of the coding region of the PAX2 gene. The finding suggests that PAX2 deletion testing should be performed in addition to gene sequencing as a part of molecular evaluation for the renal-coloboma syndrome. Array comparative genomic hybridization testing of 32 affected individuals showed that genomic deletions and duplications are not a common cause of nonsyndromic anophthalmia, microphthalmia, or coloboma but undoubtedly contribute to the etiology of these eye anomalies. Therefore, array comparative genomic hybridization testing represents an important and valuable addition to candidate gene sequencing in research and diagnostics of ocular birth defects.
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