ArticleEuropean journal of human genetics : EJHG2012
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 24 citations in OpenAlex.
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- Molecular characterization of a novel ring 6 chromosome using next generation sequencing.Molecular cytogenetics · 2016Article
- Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Cold Spring Harbor perspectives in medicine · 2015Review
- Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.BMC medical genetics · 2014Article
- Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.Molecular cytogenetics · 2014Article
- Whole-genome copy number variation analysis in anophthalmia and microphthalmia.Clinical genetics · 2013Article
- Practical guide to genetic screening for inherited eye diseases.Therapeutic advances in ophthalmologyReview
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Authors and funding
21 authors at 11 institutions in 1 country.
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Abstract
In 65 patients, who had unexplained ocular developmental anomalies (ODAs) with at least one other birth defect and/or intellectual disability, we performed oligonucleotide comparative genome hybridisation-based microarray analysis (array-CGH; 105A or 180K, Agilent Technologies). In four patients, array-CGH identified clinically relevant deletions encompassing a gene known to be involved in ocular development (FOXC1 or OTX2). In four other patients, we found three pathogenic deletions not classically associated with abnormal ocular morphogenesis, namely, del(17)(p13.3p13.3), del(10)(p14p15.3), and del(16)(p11.2p11.2). We also detected copy number variations of uncertain pathogenicity in two other patients. Rearranged segments ranged in size from 0.04 to 5.68 Mb. These results show that array-CGH provides a high diagnostic yield (15%) in patients with syndromal ODAs and can identify previously unknown chromosomal regions associated with these conditions. In addition to their importance for diagnosis and genetic counselling, these data may help identify genes involved in ocular development.
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