Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability - Université de Bourgogne Accéder directement au contenu
Article Dans Une Revue The Journal of Pediatrics Année : 2017

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

Sandra Chantot-Bastaraud
Sandra Whalen
Annick Toutain

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.
Fichier non déposé

Dates et versions

hal-01560200 , version 1 (11-07-2017)

Identifiants

Citer

Solveig Heide, Boris Keren, Thierry Billette de Villemeur, 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. ⟨10.1016/j.jpeds.2017.02.023⟩. ⟨hal-01560200⟩
160 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More