Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-05

AUTHORS

Andrée Delahaye, Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing, Annick Toutain, Alain Verloes, Frédérique Gatelais, Marie Legendre, Laurence Faivre, Sandrine Passemard, Azzedine Aboura, Sophie Kaltenbach, Samuel Quentin, Céline Dupont, Anne-Claude Tabet, Serge Amselem, Jacques Elion, Pierre Gressens, Eva Pipiras, Brigitte Benzacken

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. More... »

PAGES

527

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2011.233

DOI

http://dx.doi.org/10.1038/ejhg.2011.233

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1003046566

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22234157


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