Delineating the psychiatric and behavioral ...
Type de document :
Article dans une revue scientifique: Article original
DOI :
PMID :
URL permanente :
Titre :
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
Auteur(s) :
Wolfe, Kate [Auteur]
Mcquillin, Andrew [Auteur]
Alesi, Viola [Auteur]
Boudry-Labis, Elise [Auteur]
Cutajar, Peter [Auteur]
Dallapiccola, Bruno [Auteur]
Dentici, Maria Lisa [Auteur]
Dieux-Coeslier, Anne [Auteur]
Duban-Bedu, Benedicte [Auteur]
Duelund Hjortshoj, Tina [Auteur]
Goel, Himanshu [Auteur]
Loddo, Sara [Auteur]
Morrogh, Deborah [Auteur]
Mosca-Boidron, Anne-Laure [Auteur]
Novelli, Antonio [Auteur]
Olivier-Faivre, Laurence [Auteur]
Parker, Jennifer [Auteur]
Parker, Michael J. [Auteur]
Patch, Christine [Auteur]
Pelling, Anna L. [Auteur]
Smol, Thomas [Auteur]
Tumer, Zeynep [Auteur]
Vanakker, Olivier [Auteur]
Van Haeringen, Arie [Auteur]
Vanlerberghe, Clemence [Auteur]
Strydom, Andre [Auteur]
Skuse, David [Auteur]
Bass, Nick [Auteur]
Mcquillin, Andrew [Auteur]
Alesi, Viola [Auteur]
Boudry-Labis, Elise [Auteur]
Cutajar, Peter [Auteur]
Dallapiccola, Bruno [Auteur]
Dentici, Maria Lisa [Auteur]
Dieux-Coeslier, Anne [Auteur]
Duban-Bedu, Benedicte [Auteur]
Duelund Hjortshoj, Tina [Auteur]
Goel, Himanshu [Auteur]
Loddo, Sara [Auteur]
Morrogh, Deborah [Auteur]
Mosca-Boidron, Anne-Laure [Auteur]
Novelli, Antonio [Auteur]
Olivier-Faivre, Laurence [Auteur]
Parker, Jennifer [Auteur]
Parker, Michael J. [Auteur]
Patch, Christine [Auteur]
Pelling, Anna L. [Auteur]
Smol, Thomas [Auteur]
Tumer, Zeynep [Auteur]
Vanakker, Olivier [Auteur]
Van Haeringen, Arie [Auteur]
Vanlerberghe, Clemence [Auteur]
Strydom, Andre [Auteur]
Skuse, David [Auteur]
Bass, Nick [Auteur]
Titre de la revue :
American journal of medical genetics. Part B, Neuropsychiatric genetics . the official publication of the International Society of Psychiatric Genetics
Nom court de la revue :
Am. J. Med. Genet. B Neuropsychiatr. Genet.
Date de publication :
2018-03-31
ISSN :
1552-485X
Mot(s)-clé(s) :
autism spectrum disorders
attention deficit hyperactivity disorder
copy number variants
developmental delay
intellectual disabilities
attention deficit hyperactivity disorder
copy number variants
developmental delay
intellectual disabilities
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number ...
Lire la suite >Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database. A review of published 2q13 patient case reports was undertaken to enable combined phenotypic analysis. We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. Despite the median age of the new cases being only 9 years, 64% had a clinical psychiatric diagnosis. Combined analysis found attention deficit hyperactivity disorder (ADHD) to be the most frequent diagnosis (48% deletion, 60% duplication), followed by autism spectrum disorders (33% deletion, 17% duplication). Aggressive (33%) and self-injurious behaviors (33%) were also identified in the new cases. CNVs at 2q13 are typically associated with DD with mildly impaired intelligence, and a high rate of childhood psychiatric diagnoses-particularly ADHD. We have further characterized the clinical phenotype related to imbalances of the 2q13 region and identified it as a region of interest for the neurobiological investigation of ADHD.Lire moins >
Lire la suite >Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database. A review of published 2q13 patient case reports was undertaken to enable combined phenotypic analysis. We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. Despite the median age of the new cases being only 9 years, 64% had a clinical psychiatric diagnosis. Combined analysis found attention deficit hyperactivity disorder (ADHD) to be the most frequent diagnosis (48% deletion, 60% duplication), followed by autism spectrum disorders (33% deletion, 17% duplication). Aggressive (33%) and self-injurious behaviors (33%) were also identified in the new cases. CNVs at 2q13 are typically associated with DD with mildly impaired intelligence, and a high rate of childhood psychiatric diagnoses-particularly ADHD. We have further characterized the clinical phenotype related to imbalances of the 2q13 region and identified it as a region of interest for the neurobiological investigation of ADHD.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:01:48Z