Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

被引：0
作者：
Julie Masson
Caroline Demily
Nicolas Chatron
Audrey Labalme
Pierre-Antoine Rollat-Farnier
Caroline Schluth-Bolard
Brigitte Gilbert-Dussardier
Fabienne Giuliano
Renaud Touraine
Sylvie Tordjman
Alain Verloes
Giuseppe Testa
Damien Sanlaville
Patrick Edery
Gaetan Lesca
Massimiliano Rossi
机构：
[1] Hospices Civils de Lyon,Service de Génétique, Centre de Référence Anomalies du Développement
[2] Université Claude Bernard Lyon 1,Centre de Recherche en Neurosciences de Lyon, GENDEV Team, INSERM U1028, CNRS UMR5292
[3] Université Lyon 1,Centre de Référence GénoPsy, Service Hospitalo
[4] Université de Poitiers,Universitaire, CRMR Maladies Rares à Expression Psychiatrique, Centre Hospitalier le Vinatier, Pôle Ouest, Bron
[5] CHU de Nice,Service de génétique médicale, CHU de Poitiers, and EA 3808
[6] CHU Saint-Etienne,Service de génétique
[7] Université Rennes 1,Service de génétique clinique, chromosomique et moléculaire
[8] Université Paris Descartes,Pôle Hospitalo
[9] APHP-Robert DEBRE University Hospital,Universitaire de Psychiatrie Enfant et Adolescent (PHUPEA), Centre Hospitalier Guillaume Régnier
[10] USPC University and INSERM UMR1141,Laboratoire de Psychologie de la Perception (LPP), CNRS UMR 8158
[11] University of Milan,Département de Génétique
[12] European Institute of Oncology,Department of Oncology and Hemato
来源：
Orphanet Journal of Rare Diseases | / 14卷
关键词：
Autism Spectrum Disorder; Williams Beuren syndrome; 7q11.23 microdeletion; Whole exome sequencing;
D O I：
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摘要：
Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as “overfriendliness” and “hyersociability”. WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD). Surprisingly, the prevalence of ASD has been reported to be significantly higher in WBS (12%) than in general population (1%). Our study aims to investigate the molecular basis of the peculiar association of ASD and WBS. We performed chromosomal microarray analysis and whole exome sequencing in six patients presenting with WBS and ASD, in order to evaluate the possible presence of chromosomal or gene variants considered as pathogenic.
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