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Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study / K. BAKER in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study Type de document : Texte imprimé et/ou numérique Auteurs : K. BAKER, Auteur ; G. SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; P. C. FLETCHER, Auteur ; F. L. RAYMOND, Auteur Article en page(s) : p.8 Langues : Anglais (eng) Mots-clés : Cognition Dlg3 Genetics Intellectual disability Maguk Psychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Rare pathogenic variants in membrane-associated guanylate kinase (MAGUK) genes cause intellectual disability (ID) and have recently been associated with neuropsychiatric risk in the non-ID population. However, it is not known whether risk for psychiatric symptoms amongst individuals with ID due to MAGUK gene mutations is higher than expected for the degree of general intellectual impairment, nor whether specific cognitive differences are associated with disruption to this gene functional network. METHODS: This study addresses these two questions via behavioural questionnaires and cognitive testing, applying quantitative methods previously validated in populations with ID. We compared males with X-linked ID caused by mutations in three MAGUK genes (PAK3, DLG3, OPHN1; n = 9) to males with ID caused by mutations in other X chromosome genes (n = 17). Non-parametric and parametric analyses were applied as appropriate to data. RESULTS: Groups did not differ in age, global cognitive impairment, adaptive function or epilepsy prevalence. However, individuals with MAGUK gene mutations demonstrated significantly higher psychopathology risks, comprising elevated total problem behaviours, prominent hyperactivity and elevated scores on an autism screening checklist. Despite these overt difficulties, individuals in the MAGUK group performed more accurately than expected for age and intelligence quotient (IQ) on computerised tests of visual attention, convergent with mouse models of MAGUK loss-of-function. CONCLUSIONS: Our findings support a role for MAGUK genes in influencing cognitive parameters relevant to psychiatric risk. In addition to establishing clear patterns of impairment for this group, our findings highlight the importance of careful phenotyping after genetic diagnosis, showing that gene functional network disruptions can be associated with specific psychopathological risks and cognitive differences within the context of ID. En ligne : http://dx.doi.org/10.1186/s11689-015-9105-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.8[article] Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study [Texte imprimé et/ou numérique] / K. BAKER, Auteur ; G. SCERIF, Auteur ; Duncan E. ASTLE, Auteur ; P. C. FLETCHER, Auteur ; F. L. RAYMOND, Auteur . - p.8.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.8
Mots-clés : Cognition Dlg3 Genetics Intellectual disability Maguk Psychiatric disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Rare pathogenic variants in membrane-associated guanylate kinase (MAGUK) genes cause intellectual disability (ID) and have recently been associated with neuropsychiatric risk in the non-ID population. However, it is not known whether risk for psychiatric symptoms amongst individuals with ID due to MAGUK gene mutations is higher than expected for the degree of general intellectual impairment, nor whether specific cognitive differences are associated with disruption to this gene functional network. METHODS: This study addresses these two questions via behavioural questionnaires and cognitive testing, applying quantitative methods previously validated in populations with ID. We compared males with X-linked ID caused by mutations in three MAGUK genes (PAK3, DLG3, OPHN1; n = 9) to males with ID caused by mutations in other X chromosome genes (n = 17). Non-parametric and parametric analyses were applied as appropriate to data. RESULTS: Groups did not differ in age, global cognitive impairment, adaptive function or epilepsy prevalence. However, individuals with MAGUK gene mutations demonstrated significantly higher psychopathology risks, comprising elevated total problem behaviours, prominent hyperactivity and elevated scores on an autism screening checklist. Despite these overt difficulties, individuals in the MAGUK group performed more accurately than expected for age and intelligence quotient (IQ) on computerised tests of visual attention, convergent with mouse models of MAGUK loss-of-function. CONCLUSIONS: Our findings support a role for MAGUK genes in influencing cognitive parameters relevant to psychiatric risk. In addition to establishing clear patterns of impairment for this group, our findings highlight the importance of careful phenotyping after genetic diagnosis, showing that gene functional network disruptions can be associated with specific psychopathological risks and cognitive differences within the context of ID. En ligne : http://dx.doi.org/10.1186/s11689-015-9105-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Synapse Proteomes and Disease: The MASC Paradigm Type de document : Texte imprimé et/ou numérique Auteurs : Àlex BAYES, Auteur ; Seth G. N. GRANT, Auteur Année de publication : 2016 Importance : p.85-99 Langues : Anglais (eng) Mots-clés : Autism Cognition Intellectual disability Learning MAGUK MASC Proteomics Schizophrenia Synapse Synaptopathy Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The synapse is composed of ?2000 proteins, and mutations and genetic variants in these proteins result in a large number of disorders, collectively known as synaptopathies. A major subset of synapse proteins assemble with membrane-associated guanylate kinase (MAGUK) proteins into multiprotein complexes known as MAGUK-associated signaling complexes (MASCs). In total, 145 MASC genes have been related to 197 nervous system conditions. Cognitive behavioral disorders are prominent among these disorders, especially intellectual disability, autism, and schizophrenia. An extensive body of literature in mice has also demonstrated that mutations in MAGUK proteins result in cognitive impairments. Here we provide a detailed analysis of the genetic basis of MASC diseases. These comprehensive studies of synapse complexes and their roles in disease are a general paradigm linking proteomics, genetics, and molecular machines to brain disease. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00006-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Synapse Proteomes and Disease: The MASC Paradigm [Texte imprimé et/ou numérique] / Àlex BAYES, Auteur ; Seth G. N. GRANT, Auteur . - 2016 . - p.85-99.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism Cognition Intellectual disability Learning MAGUK MASC Proteomics Schizophrenia Synapse Synaptopathy Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The synapse is composed of ?2000 proteins, and mutations and genetic variants in these proteins result in a large number of disorders, collectively known as synaptopathies. A major subset of synapse proteins assemble with membrane-associated guanylate kinase (MAGUK) proteins into multiprotein complexes known as MAGUK-associated signaling complexes (MASCs). In total, 145 MASC genes have been related to 197 nervous system conditions. Cognitive behavioral disorders are prominent among these disorders, especially intellectual disability, autism, and schizophrenia. An extensive body of literature in mice has also demonstrated that mutations in MAGUK proteins result in cognitive impairments. Here we provide a detailed analysis of the genetic basis of MASC diseases. These comprehensive studies of synapse complexes and their roles in disease are a general paradigm linking proteomics, genetics, and molecular machines to brain disease. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00006-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : X-Linked ASDs and ID Gene Mutations Type de document : Texte imprimé et/ou numérique Auteurs : Edoardo MORETTO, Auteur ; Maria PASSAFARO, Auteur ; Silvia BASSANI, Auteur Année de publication : 2016 Importance : p.129-150 Langues : Anglais (eng) Mots-clés : MAGUK Small GTPase pathway Synapse X-LID X-Linked ASD Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Intellectual disability (ID) defines a group of disorders that cause impairment in intellectual performance. Autism spectrum disorders (ASDs) cause deficits in communication and social skills in addition to repetitive and stereotyped behaviors. We focus our attention on IDs and ASDs caused by mutations within the X chromosome on genes that exert their roles at the synapse. Notably, a significant overlap exists between ID and ASD in patients, likely mirroring the convergence of molecular pathways by which X-linked gene products regulate brain function. The genes described within are implicated in neuronal morphology, via cytoskeleton remodeling (genes belonging to the Rho GTPase pathway: OPHN1, ARHGEF6, and PAK3), in function, encoding receptor subunits (GRIA3), or acting to localize receptors and secondary messengers (ARHGEF9, TM4SF2, and the MAGUKs CASK and DLG3), and in presynaptic vesicle release (SYP, CASK, and genes belonging to the Rab GTPase pathway: RAB39B and GDI1). En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00009-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 X-Linked ASDs and ID Gene Mutations [Texte imprimé et/ou numérique] / Edoardo MORETTO, Auteur ; Maria PASSAFARO, Auteur ; Silvia BASSANI, Auteur . - 2016 . - p.129-150.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : MAGUK Small GTPase pathway Synapse X-LID X-Linked ASD Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Intellectual disability (ID) defines a group of disorders that cause impairment in intellectual performance. Autism spectrum disorders (ASDs) cause deficits in communication and social skills in addition to repetitive and stereotyped behaviors. We focus our attention on IDs and ASDs caused by mutations within the X chromosome on genes that exert their roles at the synapse. Notably, a significant overlap exists between ID and ASD in patients, likely mirroring the convergence of molecular pathways by which X-linked gene products regulate brain function. The genes described within are implicated in neuronal morphology, via cytoskeleton remodeling (genes belonging to the Rho GTPase pathway: OPHN1, ARHGEF6, and PAK3), in function, encoding receptor subunits (GRIA3), or acting to localize receptors and secondary messengers (ARHGEF9, TM4SF2, and the MAGUKs CASK and DLG3), and in presynaptic vesicle release (SYP, CASK, and genes belonging to the Rab GTPase pathway: RAB39B and GDI1). En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00009-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
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