Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability - 14/12/17
, Boris Keren, MD, PhD 4, Thierry Billette de Villemeur, MD, PhD 5, 6, 7, Sandra Chantot-Bastaraud, MD 8, Christel Depienne, PhD 3, 4, 9, 10, Caroline Nava, MD, PhD 3, 4, Cyril Mignot, MD, PhD 1, Aurélia Jacquette, MD 1, Eric Fonteneau 4, Elodie Lejeune 4, Corinne Mach 4, Isabelle Marey, MD 1, Sandra Whalen, MD 11, Didier Lacombe, MD, PhD 12, Sophie Naudion, MD 12, Caroline Rooryck, MD, PhD 12, Annick Toutain, MD, PhD 13, Cédric Le Caignec, MD, PhD 14, Damien Haye, MD 15, Laurence Olivier-Faivre, MD, PhD 16, Alice Masurel-Paulet, MD 16, Christel Thauvin-Robinet, MD, PhD 16, Fabien Lesne, CRA 1, Anne Faudet, CRA 1, Dorothée Ville, MD 17, Vincent des Portes, MD, PhD 17, Damien Sanlaville, MD, PhD 18, 19, Jean-Pierre Siffroi, MD, PhD 8, Marie-Laure Moutard, MD 5, 6, 7, Delphine Héron, MD 1, 2, 3, 11Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : corpus callosum, agenesis of corpus callosum, dysgenesis of corpus callosum, CNV, SNP array, chromosomal microarray
Abbreviations : CNVs, DGV, NF1, SHH, VOUS
Plan
| Supported by the Assistance Publique des Hôpitaux de Paris (APHP), PHRC (n°PO81260), the Fondation Maladies Rares, the Agence de la Biomédecine AOR 2012, the Agence Nationale de la Recherche (ANR Blanc 2013 CILAXCAL), and the “Investissements d'Avenir” program ANR-10-IAIHU-06 (IHU-A- ICM). S.H. is supported by a master grant from the Fondation pour la Recherche Médicale (FRM; DEA20150633232). The authors declare no conflicts of interest. |
Vol 185
P. 160 - juin 2017 Retour au numéro
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