Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q / David COHEN in Journal of Autism and Developmental Disorders, 37-8 (September 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-8 (September 2007) . - p.1585-1591 Titre : Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q Type de document : Texte imprimé et/ou numérique Auteurs : David COHEN, Auteur ; Delphine HERON, Auteur ; Laurent COHEN, Auteur ; Hélène CAVE, Auteur ; Brigitte BENZACKEN, Auteur ; Eva PIPIRAS, Auteur ; Jean-Marc GUILE, Auteur ; Ludovic DUVERGER, Auteur ; Céline AMY, Auteur ; Nicole DECHAMBRE, Auteur ; Anna WILSON, Auteur ; Claire MARTEL, Auteur ; Monique PLAZA, Auteur Année de publication : 2007 Article en page(s) : p.1585-1591 Note générale : An erratum to this article can be found at http://dx.doi.org/10.1007/s10803-006-0304-x Langues : Anglais (eng) Mots-clés : Chromosome-15 Prader-Willi/Angelman-Syndrome-critical-region Maternally-derived-interstitial-duplication Pervasive-developmental-disorder Visual-spatial-deficit Index. décimale : PER Périodiques Résumé : Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD. En ligne : http://dx.doi.org/10.1007/s10803-006-0228-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=165 [article] Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q [Texte imprimé et/ou numérique] / David COHEN, Auteur ; Delphine HERON, Auteur ; Laurent COHEN, Auteur ; Hélène CAVE, Auteur ; Brigitte BENZACKEN, Auteur ; Eva PIPIRAS, Auteur ; Jean-Marc GUILE, Auteur ; Ludovic DUVERGER, Auteur ; Céline AMY, Auteur ; Nicole DECHAMBRE, Auteur ; Anna WILSON, Auteur ; Claire MARTEL, Auteur ; Monique PLAZA, Auteur . - 2007 . - p.1585-1591. An erratum to this article can be found at http://dx.doi.org/10.1007/s10803-006-0304-x Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-8 (September 2007) . - p.1585-1591 Mots-clés : Chromosome-15 Prader-Willi/Angelman-Syndrome-critical-region Maternally-derived-interstitial-duplication Pervasive-developmental-disorder Visual-spatial-deficit Index. décimale : PER Périodiques Résumé : Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD. En ligne : http://dx.doi.org/10.1007/s10803-006-0228-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=165

Erratum : Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q / David COHEN in Journal of Autism and Developmental Disorders, 37-8 (September 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-8 (September 2007) . - p.1592 Titre : Erratum : Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q Type de document : Texte imprimé et/ou numérique Auteurs : David COHEN, Auteur ; Delphine HERON, Auteur ; Laurent COHEN, Auteur ; Hélène CAVE, Auteur ; Brigitte BENZACKEN, Auteur ; Eva PIPIRAS, Auteur ; Jean-Marc GUILE, Auteur ; Ludovic DUVERGER, Auteur ; Céline AMY, Auteur ; Nicole DECHAMBRE, Auteur ; Anna WILSON, Auteur ; Claire MARTEL, Auteur ; Monique PLAZA, Auteur Année de publication : 2007 Article en page(s) : p.1592 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-006-0304-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166 [article] Erratum : Brief Report: Visual–Spatial Deficit in a 16-year-old Girl with Maternally derived Duplication of Proximal 15q [Texte imprimé et/ou numérique] / David COHEN, Auteur ; Delphine HERON, Auteur ; Laurent COHEN, Auteur ; Hélène CAVE, Auteur ; Brigitte BENZACKEN, Auteur ; Eva PIPIRAS, Auteur ; Jean-Marc GUILE, Auteur ; Ludovic DUVERGER, Auteur ; Céline AMY, Auteur ; Nicole DECHAMBRE, Auteur ; Anna WILSON, Auteur ; Claire MARTEL, Auteur ; Monique PLAZA, Auteur . - 2007 . - p.1592. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-8 (September 2007) . - p.1592 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-006-0304-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166

Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene / Hélène POQUET in Autism - Open Access, 7-1 ([01/01/2017])  

Public ISBD [article]  inAutism - Open Access > 7-1 [01/01/2017] . - 8 p. 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 [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

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