528 recherche sur le mot-clé 'molecular-genetics'

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility / Holly N. CUKIER in Autism Research, 2-5 (October 2009)  

Public ISBD [article]  inAutism Research > 2-5 (October 2009) . - p.258-266 Titre : Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility Type de document : texte imprimé Auteurs : Holly N. CUKIER, Auteur ; Michael L. CUCCARO, Auteur ; John R. GILBERT, Auteur ; Margaret A.O. PERICAK-VANCE, Auteur ; David A. SKAAR, Auteur ; Melissa Y. RAYNER-EVANS, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; James M. JAWORSKI, Auteur Année de publication : 2009 Article en page(s) : p.258-266 Langues : Anglais (eng) Mots-clés : molecular-genetics paracentric-inversion fluorescent-in-situ-hybridization-(FISH) genome-wide-association-study-(GWAS) Index. décimale : PER Périodiques Résumé : Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint (108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation. En ligne : http://dx.doi.org/10.1002/aur.96 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=938 [article] Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility [texte imprimé] / Holly N. CUKIER, Auteur ; Michael L. CUCCARO, Auteur ; John R. GILBERT, Auteur ; Margaret A.O. PERICAK-VANCE, Auteur ; David A. SKAAR, Auteur ; Melissa Y. RAYNER-EVANS, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; James M. JAWORSKI, Auteur . - 2009 . - p.258-266. Langues : Anglais (eng) in Autism Research > 2-5 (October 2009) . - p.258-266 Mots-clés : molecular-genetics paracentric-inversion fluorescent-in-situ-hybridization-(FISH) genome-wide-association-study-(GWAS) Index. décimale : PER Périodiques Résumé : Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint (108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation. En ligne : http://dx.doi.org/10.1002/aur.96 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=938

Assessing phenotypic and polygenic models of ADHD to identify mechanisms of risk for longitudinal trajectories of externalizing behaviors / James J. LI in Journal of Child Psychology and Psychiatry, 60-11 (November 2019)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 60-11 (November 2019) . - p.1191-1199 Titre : Assessing phenotypic and polygenic models of ADHD to identify mechanisms of risk for longitudinal trajectories of externalizing behaviors Type de document : texte imprimé Auteurs : James J. LI, Auteur Article en page(s) : p.1191-1199 Langues : Anglais (eng) Mots-clés : Adhd  antisocial behavior  longitudinal studies  mediation  molecular genetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with ADHD frequently engage in higher rates of externalizing behaviors in adulthood relative to children without. However, externalizing behaviors vary across development. Little is known about how this risk unfolds across development. Phenotypic and polygenic models of childhood ADHD were used to predict individual differences in adult externalizing trajectories. Supportive parenting, school connectedness, and peer closeness were then examined as causal mechanisms. METHODS: Data were from the National Longitudinal Study of Adolescent to Adult Health (N = 7,674). Externalizing behavior was measured using data from age 18 to 32 and modeled using latent class growth analysis. Child ADHD was measured using retrospective self-report (phenotypic model) and genome-wide polygenic risk scores (polygenic model). Multiple mediation models examined the direct and indirect effects of the phenotypic and polygenic models (separately) on externalizing trajectories through the effects of adolescent supportive parenting, school connectedness, and peer closeness. RESULTS: Phenotypic and polygenic models of ADHD were associated with being in the High Decreasing (3.2% of sample) and Moderate (16.1%) adult externalizing trajectories, but not the severe Low Increasing trajectory (2.6%), relative to the Normal trajectory (78.2%). Associations between both models of ADHD on the High Decreasing and Moderate trajectories were partially mediated through the effects of school connectedness, but not supportive parenting or peer closeness. CONCLUSIONS: Findings shed light on how childhood ADHD affects downstream psychosocial processes that then predict specific externalizing outcomes in adulthood. They also reinforce the importance of fostering a strong school environment for adolescents with (and without) ADHD, as this context plays a critical role in shaping the development of externalizing behaviors in adulthood. En ligne : http://dx.doi.org/10.1111/jcpp.13071 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Assessing phenotypic and polygenic models of ADHD to identify mechanisms of risk for longitudinal trajectories of externalizing behaviors [texte imprimé] / James J. LI, Auteur . - p.1191-1199. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 60-11 (November 2019) . - p.1191-1199 Mots-clés : Adhd  antisocial behavior  longitudinal studies  mediation  molecular genetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with ADHD frequently engage in higher rates of externalizing behaviors in adulthood relative to children without. However, externalizing behaviors vary across development. Little is known about how this risk unfolds across development. Phenotypic and polygenic models of childhood ADHD were used to predict individual differences in adult externalizing trajectories. Supportive parenting, school connectedness, and peer closeness were then examined as causal mechanisms. METHODS: Data were from the National Longitudinal Study of Adolescent to Adult Health (N = 7,674). Externalizing behavior was measured using data from age 18 to 32 and modeled using latent class growth analysis. Child ADHD was measured using retrospective self-report (phenotypic model) and genome-wide polygenic risk scores (polygenic model). Multiple mediation models examined the direct and indirect effects of the phenotypic and polygenic models (separately) on externalizing trajectories through the effects of adolescent supportive parenting, school connectedness, and peer closeness. RESULTS: Phenotypic and polygenic models of ADHD were associated with being in the High Decreasing (3.2% of sample) and Moderate (16.1%) adult externalizing trajectories, but not the severe Low Increasing trajectory (2.6%), relative to the Normal trajectory (78.2%). Associations between both models of ADHD on the High Decreasing and Moderate trajectories were partially mediated through the effects of school connectedness, but not supportive parenting or peer closeness. CONCLUSIONS: Findings shed light on how childhood ADHD affects downstream psychosocial processes that then predict specific externalizing outcomes in adulthood. They also reinforce the importance of fostering a strong school environment for adolescents with (and without) ADHD, as this context plays a critical role in shaping the development of externalizing behaviors in adulthood. En ligne : http://dx.doi.org/10.1111/jcpp.13071 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes / Jakub SZABÓ in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes Type de document : texte imprimé Auteurs : Jakub SZABÓ, Auteur ; Johan FILO, Auteur ; Rebeka DÉMUTHOVÁ, Auteur ; Emese RENCZÉS, Auteur ; Veronika BORBÉLYOVÁ, Auteur ; Daniela OSTATNIKOVA, Auteur ; Peter CELEC, Auteur Langues : Anglais (eng) Mots-clés : Animals  Male  Female  Mice  Nerve Tissue Proteins/genetics  Behavior, Animal/physiology  Phenotype  Disease Models, Animal  Mice, Inbred C57BL  Autism Spectrum Disorder/genetics/physiopathology  Anxiety/genetics/physiopathology  Aging/physiology  Social Behavior  Mice, Knockout  Sex Factors  Microfilament Proteins  Animal model  Phelan-McDermid syndrome  Phenotyping  Symptom development  conducted in accordance with the Slovak national laws and approved by the ethics  committee of the Institute of Molecular Biomedicine. Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: High heritability (80-90%) of the autism spectrum disorder (ASD) and sex-biased incidence (3-4 times more boys than girls) suggest the roles of genetic predisposition and sex in the etiopathogenesis of the disorder. As ASD is commonly diagnosed in early childhood, most of the research is focused on children, yet animal research predominantly uses adult-aged animals. The effect of aging on the core and secondary ASD symptomatology is understudied, both in patients and animal models of ASD. METHODS: To investigate the effect of aging on sociability, repetitive behavior, exploration, locomotor activity, anxiety-like behavior, and object-avoidance behavior, behavioral phenotyping was conducted in Shank3B(-/-) (n = 67) and C57BL/6J wild-type (WT, n = 68) mice of both sexes (female n = 70, male n = 65) in adolescence (1-2 months of age, n = 42), adulthood (3-6 months of age, n = 40), and old age (12-18 months of age, n = 53). RESULTS: Social deficits were observed only in old Shank3B(-/-) males. Anxiety-like behavior peaked in adulthood with Shank3B(-/-) mice roughly 20% more anxious than controls. Repetitive grooming and object-induced avoidance behavior were twice more prevalent in Shank3B(-/-) mice consistently across the lifespan. Hypoactivity (20% less distance moved) and reduced exploration (30% less rearing behavior) were recorded in Shank3B(-/-) mice and were more prevalent in female animals (30% less rearing behavior). Data were analyzed using the Three-way ANOVA (genotype, sex, age), followed by a posthoc Bonferroni correction to compare respective subgroups. CONCLUSIONS: Present study shows that aging affects ASD-like phenotype in the Shank3B-mutant mouse model, even though the effect size seems to be small. The mechanisms underlying these partially sex-specific effects should be the subject of further research with potential translational implications. En ligne : https://dx.doi.org/10.1186/s11689-025-09635-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes [texte imprimé] / Jakub SZABÓ, Auteur ; Johan FILO, Auteur ; Rebeka DÉMUTHOVÁ, Auteur ; Emese RENCZÉS, Auteur ; Veronika BORBÉLYOVÁ, Auteur ; Daniela OSTATNIKOVA, Auteur ; Peter CELEC, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Animals  Male  Female  Mice  Nerve Tissue Proteins/genetics  Behavior, Animal/physiology  Phenotype  Disease Models, Animal  Mice, Inbred C57BL  Autism Spectrum Disorder/genetics/physiopathology  Anxiety/genetics/physiopathology  Aging/physiology  Social Behavior  Mice, Knockout  Sex Factors  Microfilament Proteins  Animal model  Phelan-McDermid syndrome  Phenotyping  Symptom development  conducted in accordance with the Slovak national laws and approved by the ethics  committee of the Institute of Molecular Biomedicine. Consent for publication: Not  applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: High heritability (80-90%) of the autism spectrum disorder (ASD) and sex-biased incidence (3-4 times more boys than girls) suggest the roles of genetic predisposition and sex in the etiopathogenesis of the disorder. As ASD is commonly diagnosed in early childhood, most of the research is focused on children, yet animal research predominantly uses adult-aged animals. The effect of aging on the core and secondary ASD symptomatology is understudied, both in patients and animal models of ASD. METHODS: To investigate the effect of aging on sociability, repetitive behavior, exploration, locomotor activity, anxiety-like behavior, and object-avoidance behavior, behavioral phenotyping was conducted in Shank3B(-/-) (n = 67) and C57BL/6J wild-type (WT, n = 68) mice of both sexes (female n = 70, male n = 65) in adolescence (1-2 months of age, n = 42), adulthood (3-6 months of age, n = 40), and old age (12-18 months of age, n = 53). RESULTS: Social deficits were observed only in old Shank3B(-/-) males. Anxiety-like behavior peaked in adulthood with Shank3B(-/-) mice roughly 20% more anxious than controls. Repetitive grooming and object-induced avoidance behavior were twice more prevalent in Shank3B(-/-) mice consistently across the lifespan. Hypoactivity (20% less distance moved) and reduced exploration (30% less rearing behavior) were recorded in Shank3B(-/-) mice and were more prevalent in female animals (30% less rearing behavior). Data were analyzed using the Three-way ANOVA (genotype, sex, age), followed by a posthoc Bonferroni correction to compare respective subgroups. CONCLUSIONS: Present study shows that aging affects ASD-like phenotype in the Shank3B-mutant mouse model, even though the effect size seems to be small. The mechanisms underlying these partially sex-specific effects should be the subject of further research with potential translational implications. En ligne : https://dx.doi.org/10.1186/s11689-025-09635-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Combined polygenic risk scores of different psychiatric traits predict general and specific psychopathology in childhood / Alexander NEUMANN in Journal of Child Psychology and Psychiatry, 63-6 (June 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-6 (June 2022) . - p.636-645 Titre : Combined polygenic risk scores of different psychiatric traits predict general and specific psychopathology in childhood Type de document : texte imprimé Auteurs : Alexander NEUMANN, Auteur ; Alexia JOLICOEUR-MARTINEAU, Auteur ; Eszter SZEKELY, Auteur ; Hannah M. SALLIS, Auteur ; Kieran O'DONNEL, Auteur ; Celia M.T. GREENWOOD, Auteur ; Robert LEVITAN, Auteur ; Michael J. MEANEY, Auteur ; Ashley WAZANA, Auteur ; Jonathan P. EVANS, Auteur ; Henning TIEMEIER, Auteur Article en page(s) : p.636-645 Langues : Anglais (eng) Mots-clés : Genetics  comorbidity  externalizing disorder  internalizing disorder  meta-analysis  molecular Index. décimale : PER Périodiques Résumé : BACKGROUND: Polygenic risk scores (PRSs) operationalize genetic propensity toward a particular mental disorder and hold promise as early predictors of psychopathology, but before a PRS can be used clinically, explanatory power must be increased and the specificity for a psychiatric domain established. To enable early detection, it is crucial to study these psychometric properties in childhood. We examined whether PRSs associate more with general or with specific psychopathology in school-aged children. Additionally, we tested whether psychiatric PRSs can be combined into a multi-PRS score for improved performance. METHODS: We computed 16 PRSs based on GWASs of psychiatric phenotypes, but also neuroticism and cognitive ability, in mostly adult populations. Study participants were 9,247 school-aged children from three population-based cohorts of the DREAM-BIG consortium: ALSPAC (UK), The Generation R Study (Netherlands), and MAVAN (Canada). We associated each PRS with general and specific psychopathology factors, derived from a bifactor model based on self-report and parental, teacher, and observer reports. After fitting each PRS in separate models, we also tested a multi-PRS model, in which all PRSs are entered simultaneously as predictors of the general psychopathology factor. RESULTS: Seven PRSs were associated with the general psychopathology factor after multiple testing adjustment, two with specific externalizing and five with specific internalizing psychopathology. PRSs predicted general psychopathology independently of each other, with the exception of depression and depressive symptom PRSs. Most PRSs associated with a specific psychopathology domain, were also associated with general child psychopathology. CONCLUSIONS: The results suggest that PRSs based on current GWASs of psychiatric phenotypes tend to be associated with general psychopathology, or both general and specific psychiatric domains, but not with one specific psychopathology domain only. Furthermore, PRSs can be combined to improve predictive ability. PRS users should therefore be conscious of nonspecificity and consider using multiple PRSs simultaneously, when predicting psychiatric disorders. En ligne : http://dx.doi.org/10.1111/jcpp.13501 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] Combined polygenic risk scores of different psychiatric traits predict general and specific psychopathology in childhood [texte imprimé] / Alexander NEUMANN, Auteur ; Alexia JOLICOEUR-MARTINEAU, Auteur ; Eszter SZEKELY, Auteur ; Hannah M. SALLIS, Auteur ; Kieran O'DONNEL, Auteur ; Celia M.T. GREENWOOD, Auteur ; Robert LEVITAN, Auteur ; Michael J. MEANEY, Auteur ; Ashley WAZANA, Auteur ; Jonathan P. EVANS, Auteur ; Henning TIEMEIER, Auteur . - p.636-645. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-6 (June 2022) . - p.636-645 Mots-clés : Genetics  comorbidity  externalizing disorder  internalizing disorder  meta-analysis  molecular Index. décimale : PER Périodiques Résumé : BACKGROUND: Polygenic risk scores (PRSs) operationalize genetic propensity toward a particular mental disorder and hold promise as early predictors of psychopathology, but before a PRS can be used clinically, explanatory power must be increased and the specificity for a psychiatric domain established. To enable early detection, it is crucial to study these psychometric properties in childhood. We examined whether PRSs associate more with general or with specific psychopathology in school-aged children. Additionally, we tested whether psychiatric PRSs can be combined into a multi-PRS score for improved performance. METHODS: We computed 16 PRSs based on GWASs of psychiatric phenotypes, but also neuroticism and cognitive ability, in mostly adult populations. Study participants were 9,247 school-aged children from three population-based cohorts of the DREAM-BIG consortium: ALSPAC (UK), The Generation R Study (Netherlands), and MAVAN (Canada). We associated each PRS with general and specific psychopathology factors, derived from a bifactor model based on self-report and parental, teacher, and observer reports. After fitting each PRS in separate models, we also tested a multi-PRS model, in which all PRSs are entered simultaneously as predictors of the general psychopathology factor. RESULTS: Seven PRSs were associated with the general psychopathology factor after multiple testing adjustment, two with specific externalizing and five with specific internalizing psychopathology. PRSs predicted general psychopathology independently of each other, with the exception of depression and depressive symptom PRSs. Most PRSs associated with a specific psychopathology domain, were also associated with general child psychopathology. CONCLUSIONS: The results suggest that PRSs based on current GWASs of psychiatric phenotypes tend to be associated with general psychopathology, or both general and specific psychiatric domains, but not with one specific psychopathology domain only. Furthermore, PRSs can be combined to improve predictive ability. PRS users should therefore be conscious of nonspecificity and consider using multiple PRSs simultaneously, when predicting psychiatric disorders. En ligne : http://dx.doi.org/10.1111/jcpp.13501 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly / Kim L. MCBRIDE in Autism Research, 3-3 (June 2010)  

Public ISBD [article]  inAutism Research > 3-3 (June 2010) . - p.137-141 Titre : Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly Type de document : texte imprimé Auteurs : Kim L. MCBRIDE, Auteur ; Elizabeth A. VARGA, Auteur ; Matthew T. PASTORE, Auteur ; Thomas W. PRIOR, Auteur ; Kandamurugu MANICKAM, Auteur ; Joan F. ATKIN, Auteur ; Gail E. HERMAN, Auteur Année de publication : 2010 Article en page(s) : p.137-141 Langues : Anglais (eng) Mots-clés : genetic Cowden-syndrome molecular-genetics PTEN cancer autism developmental-delay Index. décimale : PER Périodiques Résumé : There is a strong genetic component to autism spectrum disorders (ASD), but due to significant genetic heterogeneity, individual genetic abnormalities contribute a small percentage to the overall total. Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or mental retardation/developmental delays (MR/DD) and macrocephaly that do not have features of Cowden or Bannayan-Riley-Ruvalcaba syndrome. This study was performed to confirm our previous results. We reviewed the charts of individuals who had PTEN clinical sequencing performed at our institution from January 2008 to July 2009. There were 93 subjects tested from our institution during that period. PTEN mutations were found in 2/39 (5.1%) ASD patients and 2/51 (3.9%) MR/DD patients. Three additional patients without mutations had no diagnostic information. Multiple relatives of individuals with a PTEN mutation had macrocephaly, MR, or early onset cancer (breast, renal, and prostate). Of those relatives tested, all had the familial PTEN mutation. None of the affected relatives had previously been diagnosed with Cowden or Bannayan-Riley-Ruvalcaba syndrome. We noted in our previous study several adult relatives without any findings who carried a mutation. Combined with data from our previous cohort, we have found PTEN mutations in 7/99 (7.1%) of individuals with ASD and 8/100 (8.0%) of individuals with MR/DD, all of whom had macrocephaly. We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation. En ligne : http://dx.doi.org/10.1002/aur.132 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=107 [article] Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly [texte imprimé] / Kim L. MCBRIDE, Auteur ; Elizabeth A. VARGA, Auteur ; Matthew T. PASTORE, Auteur ; Thomas W. PRIOR, Auteur ; Kandamurugu MANICKAM, Auteur ; Joan F. ATKIN, Auteur ; Gail E. HERMAN, Auteur . - 2010 . - p.137-141. Langues : Anglais (eng) in Autism Research > 3-3 (June 2010) . - p.137-141 Mots-clés : genetic Cowden-syndrome molecular-genetics PTEN cancer autism developmental-delay Index. décimale : PER Périodiques Résumé : There is a strong genetic component to autism spectrum disorders (ASD), but due to significant genetic heterogeneity, individual genetic abnormalities contribute a small percentage to the overall total. Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or mental retardation/developmental delays (MR/DD) and macrocephaly that do not have features of Cowden or Bannayan-Riley-Ruvalcaba syndrome. This study was performed to confirm our previous results. We reviewed the charts of individuals who had PTEN clinical sequencing performed at our institution from January 2008 to July 2009. There were 93 subjects tested from our institution during that period. PTEN mutations were found in 2/39 (5.1%) ASD patients and 2/51 (3.9%) MR/DD patients. Three additional patients without mutations had no diagnostic information. Multiple relatives of individuals with a PTEN mutation had macrocephaly, MR, or early onset cancer (breast, renal, and prostate). Of those relatives tested, all had the familial PTEN mutation. None of the affected relatives had previously been diagnosed with Cowden or Bannayan-Riley-Ruvalcaba syndrome. We noted in our previous study several adult relatives without any findings who carried a mutation. Combined with data from our previous cohort, we have found PTEN mutations in 7/99 (7.1%) of individuals with ASD and 8/100 (8.0%) of individuals with MR/DD, all of whom had macrocephaly. We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation. En ligne : http://dx.doi.org/10.1002/aur.132 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=107

Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder / Mohammed Sarfaraz NAWAZ ; Peter C. KIND ; Michael A. COUSIN in Molecular Autism, 16 (2025)  

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Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes / Mohammed UDDIN ; Joris A. VELTMAN ; Sara WELLS ; Christopher MORRIS ; Marc WOODBURY-SMITH in Molecular Autism, 16 (2025)  

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Gene-environment correlations in parental emotional warmth and intolerance: genome-wide analysis over two generations of the Young Finns Study / Henrik DOBEWALL in Journal of Child Psychology and Psychiatry, 60-3 (March 2019)  

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Gene-environment interplay in externalizing behavior from childhood through adulthood / Tina KRETSCHMER in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)  

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How neuropsychology informs our understanding of developmental disorders / Bruce F. PENNINGTON in Journal of Child Psychology and Psychiatry, 50-1-2 (January/February 2009)  

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