title: Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
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.
authors.affiliation: AP-HP, Hôpital Jean Verdier, Service d'Histologie, Embryologie, et Cytogénétique, Bondy, France. andree.delahaye@jvr.aphp.fr
authors.forename: Andrée
authors.initials: A
authors.lastname: Delahaye
authors.forename: Pierre
authors.initials: P
authors.lastname: Bitoun
authors.forename: Séverine
authors.initials: S
authors.lastname: Drunat
authors.forename: Marion
authors.initials: M
authors.lastname: Gérard-Blanluet
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Frédérique
authors.initials: F
authors.lastname: Gatelais
authors.forename: Marie
authors.initials: M
authors.lastname: Legendre
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Sandrine
authors.initials: S
authors.lastname: Passemard
authors.forename: Azzedine
authors.initials: A
authors.lastname: Aboura
authors.forename: Sophie
authors.initials: S
authors.lastname: Kaltenbach
authors.forename: Samuel
authors.initials: S
authors.lastname: Quentin
authors.forename: Céline
authors.initials: C
authors.lastname: Dupont
authors.forename: Anne-Claude
authors.initials: AC
authors.lastname: Tabet
authors.forename: Serge
authors.initials: S
authors.lastname: Amselem
authors.forename: Jacques
authors.initials: J
authors.lastname: Elion
authors.forename: Pierre
authors.initials: P
authors.lastname: Gressens
authors.forename: Eva
authors.initials: E
authors.lastname: Pipiras
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D018628:Gene Dosage; D015894:Genome, Human; D006801:Humans; D008297:Male; D051857:Otx Transcription Factors / Q000235:genetics; D013577:Syndrome
chemical_list: C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors; C497659:OTX2 protein, human; D051857:Otx Transcription Factors