ArticleClinical genetics2013
Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 52 citations in OpenAlex.
- Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.Biomedical reports · 2026Article
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.Molecular genetics & genomic medicine · 2025Review
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Bibliometric analysis of microphthalmos and anophthalmos over 20 years: from 2004 to 2023.International journal of ophthalmology · 2024Article
- An Unusual Presentation of Novel Missense Variant inCurrent issues in molecular biology · 2023Article
- Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.The British journal of ophthalmology · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of theFrontiers in genetics · 2022Article
- Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.American journal of medical genetics. Part A · 2022Article
- Clinical and genetic findings in patients with congenital cataract and heart diseases.Orphanet journal of rare diseases · 2021Article
- New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.American journal of medical genetics. Part A · 2020Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- The genetic architecture of aniridia and Gillespie syndrome.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
- Systems biology of lens development: A paradigm for disease gene discovery in the eye.Experimental eye research · 2017Review
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
- Genetic Advances in Microphthalmia.Journal of pediatric genetics · 2016Review
- Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.Clinical genetics · 2016Article
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole-genome copy number variation analysis in 60 patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel rearrangements (uncertain significance). A 2.2-Mb duplication of 3q29 in a patient with non-syndromic anophthalmia and an 877-kb duplication of 11p13 (PAX6) and a 1.4-Mb deletion of 17q11.2 (NF1) in two independent probands with syndromic microphthalmia and other ocular defects were identified; while ocular anomalies have been previously associated with 3q29 duplications, PAX6 duplications, and NF1 mutations in some cases, the ocular phenotypes observed here are more severe than previously reported. Three novel regions of possible interest included a 2q14.2 duplication which cosegregated with microphthalmia/microcornea and congenital cataracts in one family, and 2q21 and 15q26 duplications in two additional cases; each of these regions contains genes that are active during vertebrate ocular development. Overall, this study identified causative copy number mutations and regions with a possible role in ocular disease in 17% of A/M cases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.