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Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population / Watfa AL-MAMARI in Journal of Autism and Developmental Disorders, 45-8 (August 2015)
[article]
Titre : Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population Type de document : Texte imprimé et/ou numérique Auteurs : Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur Année de publication : 2015 Article en page(s) : p.2323-2328 Langues : Anglais (eng) Mots-clés : Autism Autism spectrum disorders Chromosomal microarray Array-CGH Diagnostic yield Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263
in Journal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328[article] Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population [Texte imprimé et/ou numérique] / Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur . - 2015 . - p.2323-2328.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328
Mots-clés : Autism Autism spectrum disorders Chromosomal microarray Array-CGH Diagnostic yield Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263 Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene / Hélène POQUET in Autism - Open Access, 7-1 ([01/01/2017])
[article]
Titre : Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene Type de document : Texte imprimé et/ou numérique Auteurs : Hélène POQUET, Auteur ; Laurence FAIVRE, Auteur ; Salima EL CHEHADEH, Auteur ; Jenny MORTON, Auteur ; Dominic MCMULLAN, Auteur ; Susan HAMILTON, Auteur ; Himanshu GOEL, Auteur ; Bertrand ISIDOR, Auteur ; Cédric LE CAIGNEC, Auteur ; Joris ANDRIEUX, Auteur ; Bruno DELOBEL, Auteur ; Eva PIPIRAS, Auteur ; Anne-Claude TABET, Auteur ; Andrée DELAHAYE, Auteur ; Loic DEPONTUAL, Auteur ; Mathilde LEFEBVRE, Auteur ; Caroline JACQUOT, Auteur ; Alice MASUREL, Auteur ; Frédéric HUET, Auteur ; Jean-Michel PINOIT, Auteur ; Vincent MEILLE, Auteur ; Maud BENETTI, Auteur ; Eddy PONAVOY, Auteur ; Jean-Christophe CHAUVET-GELINIER, Auteur ; Benoit TROJAK, Auteur ; Bernard BONIN, Auteur ; Christine JUIF, Auteur ; Anne COLLINET DE LA SALLE, Auteur ; Christel THAUVIN-ROBINET, Auteur ; Nathalie LAGARDE, Auteur ; Céline HENRY, Auteur ; Nathalie MARLE, Auteur ; Patrick CALLIER, Auteur ; Anne-Laure MOSCA-BOIDRON, Auteur Article en page(s) : 8 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorders Array-CGH Copy number variation Intellectual disability Neurodevelopmental disorders DLGAP2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. The core symptoms typically coexist with other medical conditions such as intellectual disability. The involvement of rare copy number variations of varying expressivity and penetrance as risk factors in autism spectrum disorders/intellectual disability phenotypes has been highlighted in large series. TheDLGAP2 gene, whose glutamatergic postsynaptic density product may play a role in synaptogenesis and plasticity, has been identified as a novel candidate on the basis of 2 de novo duplications in sporadic non-syndromic autism spectrum disorders/intellectual disability males. It has also been suggested that increased DLGAP2 gene expression may contribute to the pathogenesis of schizophrenia spectrum disorders. Based on these results and after fine phenotyping of another patient with a de novo duplication involving DLGAP2 and presenting with autism spectrum disorder intersecting early-onset schizophrenia spectrum disorder, we gathered an international series of 9 cases (6families) via international data sharing. Four sporadic males presented with autism spectrum disorders and one had other neurodevelopmental disorders. A family with 4 females displayed intellectual disability (2/4) and specific learning disorder (2/4). This study supports the hypothesis that rare copy number variations encompassing DLGAP2with incomplete penetrance and variable expressivity could predispose to a broad range of early-onset neurodevelopmental disorders trajectories including autism spectrum disorders/intellectual disability, highlighting the existence of common predisposing factors to these overlapping phenotypic spectrums. En ligne : https://dx.doi.org/10.4172/2165-7890.1000197 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410
in Autism - Open Access > 7-1 [01/01/2017] . - 8 p.[article] Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene [Texte imprimé et/ou numérique] / Hélène POQUET, Auteur ; Laurence FAIVRE, Auteur ; Salima EL CHEHADEH, Auteur ; Jenny MORTON, Auteur ; Dominic MCMULLAN, Auteur ; Susan HAMILTON, Auteur ; Himanshu GOEL, Auteur ; Bertrand ISIDOR, Auteur ; Cédric LE CAIGNEC, Auteur ; Joris ANDRIEUX, Auteur ; Bruno DELOBEL, Auteur ; Eva PIPIRAS, Auteur ; Anne-Claude TABET, Auteur ; Andrée DELAHAYE, Auteur ; Loic DEPONTUAL, Auteur ; Mathilde LEFEBVRE, Auteur ; Caroline JACQUOT, Auteur ; Alice MASUREL, Auteur ; Frédéric HUET, Auteur ; Jean-Michel PINOIT, Auteur ; Vincent MEILLE, Auteur ; Maud BENETTI, Auteur ; Eddy PONAVOY, Auteur ; Jean-Christophe CHAUVET-GELINIER, Auteur ; Benoit TROJAK, Auteur ; Bernard BONIN, Auteur ; Christine JUIF, Auteur ; Anne COLLINET DE LA SALLE, Auteur ; Christel THAUVIN-ROBINET, Auteur ; Nathalie LAGARDE, Auteur ; Céline HENRY, Auteur ; Nathalie MARLE, Auteur ; Patrick CALLIER, Auteur ; Anne-Laure MOSCA-BOIDRON, Auteur . - 8 p.
Langues : Anglais (eng)
in Autism - Open Access > 7-1 [01/01/2017] . - 8 p.
Mots-clés : Autism spectrum disorders Array-CGH Copy number variation Intellectual disability Neurodevelopmental disorders DLGAP2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. The core symptoms typically coexist with other medical conditions such as intellectual disability. The involvement of rare copy number variations of varying expressivity and penetrance as risk factors in autism spectrum disorders/intellectual disability phenotypes has been highlighted in large series. TheDLGAP2 gene, whose glutamatergic postsynaptic density product may play a role in synaptogenesis and plasticity, has been identified as a novel candidate on the basis of 2 de novo duplications in sporadic non-syndromic autism spectrum disorders/intellectual disability males. It has also been suggested that increased DLGAP2 gene expression may contribute to the pathogenesis of schizophrenia spectrum disorders. Based on these results and after fine phenotyping of another patient with a de novo duplication involving DLGAP2 and presenting with autism spectrum disorder intersecting early-onset schizophrenia spectrum disorder, we gathered an international series of 9 cases (6families) via international data sharing. Four sporadic males presented with autism spectrum disorders and one had other neurodevelopmental disorders. A family with 4 females displayed intellectual disability (2/4) and specific learning disorder (2/4). This study supports the hypothesis that rare copy number variations encompassing DLGAP2with incomplete penetrance and variable expressivity could predispose to a broad range of early-onset neurodevelopmental disorders trajectories including autism spectrum disorders/intellectual disability, highlighting the existence of common predisposing factors to these overlapping phenotypic spectrums. En ligne : https://dx.doi.org/10.4172/2165-7890.1000197 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410