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

被引:0
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作者
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
机构
[1] AP-HP,Département de Génétique
[2] Hôpital Jean Verdier,Département de Génétique
[3] Service d’Histologie,undefined
[4] Embryologie,undefined
[5] et Cytogénétique,undefined
[6] Université Paris-Nord,undefined
[7] Paris 13,undefined
[8] UFR SMBH,undefined
[9] Inserm,undefined
[10] U676,undefined
[11] AP-HP,undefined
[12] Hôpital Jean Verdier,undefined
[13] Consultations de génétique médicale,undefined
[14] Service de Pédiatrie,undefined
[15] AP-HP,undefined
[16] Hôpital Robert Debré,undefined
[17] CHU Toulouse,undefined
[18] Hôpital Purpan,undefined
[19] Service de Génétique Médicale,undefined
[20] CHU de Tours,undefined
[21] Hôpital Bretonneau,undefined
[22] Université Paris Diderot,undefined
[23] Faculté de Médecine,undefined
[24] CHU d’Angers,undefined
[25] Service d’endocrinologie diabétologie pédiatrique,undefined
[26] Inserm,undefined
[27] U933,undefined
[28] Université Paris 6,undefined
[29] AP-HP,undefined
[30] Hôpital Armand-Trousseau,undefined
[31] CHU de Dijon,undefined
[32] Centre de Génétique,undefined
[33] AP-HP,undefined
[34] Hôpital Necker-Enfants-Malades,undefined
[35] Service de Cytogénétique,undefined
[36] Université Paris Descartes,undefined
[37] AP-HP,undefined
[38] Hôpital Saint-Louis,undefined
[39] Plateforme génomique,undefined
[40] Institut Universitaire d’Hématologie,undefined
[41] Inserm,undefined
[42] U763,undefined
来源
关键词
ocular developmental anomaly; array-CGH; 16p11.2 deletion;
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摘要
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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页码:527 / 533
页数:6
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