Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

被引：0

作者：

Caroline Nava

Boris Keren

Cyril Mignot

Agnès Rastetter

Sandra Chantot-Bastaraud

Anne Faudet

Eric Fonteneau

Claire Amiet

Claudine Laurent

Aurélia Jacquette

Sandra Whalen

Alexandra Afenjar

Didier Périsse

Diane Doummar

Nathalie Dorison

Marion Leboyer

Jean-Pierre Siffroi

David Cohen

Alexis Brice

Delphine Héron

Christel Depienne

机构：

[1] INSERM,Département de Génétique et de Cytogénétique

[2] U975 (CRICM),Département de Génétique et de Cytogénétique

[3] Institut du cerveau et de la moelle épinière (ICM),Département de Génétique et de Cytogénétique

[4] Hôpital Pitié-Salpêtrière,undefined

[5] CNRS 7225 (CRICM),undefined

[6] Hôpital Pitié-Salpêtrière,undefined

[7] Université Pierre et Marie Curie-Paris-6 (UPMC),undefined

[8] UMR_S 975,undefined

[9] AP-HP,undefined

[10] Hôpital Pitié-Salpêtrière,undefined

[11] Unité fonctionnelle de génétique clinique,undefined

[12] AP-HP,undefined

[13] Hôpital Pitié-Salpêtrière,undefined

[14] Unité fonctionnelle de cytogénétique,undefined

[15] AP-HP,undefined

[16] Hôpital Armand Trousseau,undefined

[17] Service de Neuropédiatrie,undefined

[18] Centre de Référence ‘déficiences intellectuelles de causes rares’,undefined

[19] Groupe de Recherche Clinique (GRC) ‘déficience intellectuelle et autisme’ UPMC,undefined

[20] AP-HP,undefined

[21] Hôpital Armand Trousseau,undefined

[22] Service de Génétique et Embryologie Médicales,undefined

[23] AP-HP,undefined

[24] Hôpital Pitié-Salpêtrière,undefined

[25] Service de Psychiatrie de l’enfant et de l’adolescent,undefined

[26] Centre de Référence des anomalies du développement et syndromes malformatifs,undefined

[27] Hôpital Armand Trousseau,undefined

[28] Centre Diagnostic Autisme,undefined

[29] Pitié-Salpêtrière Hôpital,undefined

[30] INSERM,undefined

[31] U955,undefined

[32] Université Paris Est,undefined

[33] Faculté de médecine,undefined

[34] AP-HP,undefined

[35] Hôpital H Mondor – A. Chenevier,undefined

[36] Pole de Psychiatrie,undefined

[37] Fondation FondaMental,undefined

[38] Institut des Systèmes Intelligents et Robotiques,undefined

[39] CNRS UMR 7222,undefined

[40] UPMC-Paris-6,undefined

[41] AP-HP,undefined

[42] Hôpital Pitié-Salpêtrière,undefined

[43] Unité fonctionnelle de neurogénétique moléculaire et cellulaire,undefined

来源：

European Journal of Human Genetics | 2014年 / 22卷

关键词：

copy number variants; autism spectrum disorders; 15q11–q12 triplication; autosomal recessive inheritance; genetic interactions;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11–q12 of paternal origin, a deletion on chromosome 9p24 and a de novo 3q29 deletion, were identified as the cause of the disorder in one individual each. An autosomal recessive cause was considered possible in two patients: a homozygous 1p31.1 deletion encompassing PTGER3 and a deletion of the entire DOCK10 gene associated with a rare hemizygous missense variant. We also identified multiple private or recurrent CNVs, the majority of which were inherited from asymptomatic parents. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, our results mainly support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome. Identification of these genetic interactions in individuals with ASDs constitutes a formidable challenge.

引用

页码：71 / 78

页数：7