Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide 1, * Boris Keren 2, 3 Thierry Ville Sandra Chantot-Bastaraud 4 Christel Depienne Caroline Nava 2, 3 Cyril Mignot 5 Aurélia Jacquette 6 Eric Fonteneau Elodie Lejeune Corinne Mach Isabelle Marey 7 Sandra Whalen 6 Didier Lacombe Sophie Naudion Caroline Rooryck Annick Toutain 8, 9 Cédric Le Caignec 10 Damien Haye 8 Laurence Olivier-Faivre 11 Alice Masurel-Paulet 11 Christel Thauvin-Robinet 11 Fabien Lesne 2 Anne Faudet 6 Dorothée Ville 12 Vincent Des Portes 13 Damien Sanlaville 14, 15 Jean-Pierre Siffroi 16, 17, 18 Marie-Laure Moutard 19 Delphine Héron 5, 1
Résumé : OBJECTIVE: To evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we analyzed copy number variations (CNVs) in patients with corpus callosum abnormality/intellectual disability STUDY DESIGN: We screened 149 patients with corpus callosum abnormality/intellectual disability using Illumina SNP arrays. RESULTS: In 20 patients (13%), we have identified at least 1 CNV that likely contributes to corpus callosum abnormality/intellectual disability phenotype. We confirmed that the most common rearrangement in corpus callosum abnormality/intellectual disability is inverted duplication with terminal deletion of the 8p chromosome (3.2%). In addition to the identification of known recurrent CNVs, such as deletions 6qter, 18q21 (including TCF4), 1q43q44, 17p13.3, 14q12, 3q13, 3p26, and 3q26 (including SOX2), our analysis allowed us to refine the 2 known critical regions associated with 8q21.1 deletion and 19p13.1 duplication relevant for corpus callosum abnormality; report a novel 10p12 deletion including ZEB1 recently implicated in corpus callosum abnormality with corneal dystrophy; and) report a novel pathogenic 7q36 duplication encompassing SHH. In addition, 66 variants of unknown significance were identified in 57 patients encompassed candidate genes. CONCLUSIONS: Our results confirm the relevance of using microarray analysis as first line test in patients with corpus callosum abnormality/intellectual disability. Copyright © 2017 Elsevier Inc. All rights reserved.
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Contributeur : Lnc - Université de Bourgogne <>
Soumis le : mardi 11 juillet 2017 - 12:27:00
Dernière modification le : lundi 17 septembre 2018 - 17:43:18

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Solveig Heide, Boris Keren, Thierry Ville, Sandra Chantot-Bastaraud, Christel Depienne, et al.. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability. The Journal of Pediatrics, 2017, 185, pp.160 - 166.e1. 〈http://www.sciencedirect.com/science/article/pii/S0022347617302214〉. 〈10.1016/j.jpeds.2017.02.023〉. 〈hal-01560200〉

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