16 recherche sur le mot-clé 'Genetic Predisposition to Disease'

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism / R. CHEN in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 14p. Titre : Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism Type de document : Texte imprimé et/ou numérique Auteurs : R. CHEN, Auteur ; L. K. DAVIS, Auteur ; S. GUTER, Auteur ; Q. WEI, Auteur ; S. JACOB, Auteur ; M. H. POTTER, Auteur ; Nancy J. COX, Auteur ; Edwin H. Jr COOK, Auteur ; J. S. SUTCLIFFE, Auteur ; B. LI, Auteur Article en page(s) : 14p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/*genetics/metabolism  Endophenotypes/blood  Exome  Female  Forkhead Transcription Factors/*genetics  Genetic Predisposition to Disease  Humans  Jumonji Domain-Containing Histone Demethylases/*genetics  Male  *Mutation  Nuclear Proteins/*genetics  Repressor Proteins/*genetics  Sequence Analysis, DNA/methods  Serotonin/*blood  Signal Transduction  Ubiquitin-Specific Proteases/*genetics  *5-ht  *Autism  *Autism spectrum disorder  *Compound heterozygotes  *De novo mutation  *Endophenotype  *Group-wise transmission/disequilibrium test  *Hyperserotonemia  *Rare variants  *Serotonin  *Whole exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown. METHODS: In this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parent-proband trios with most (107) probands having 5-HT measurements. RESULTS: Combined with published ASD DNVs, we identified USP15 as having recurrent de novo loss of function mutations and discovered evidence supporting two other known genes with recurrent DNVs (FOXP1 and KDM5B). Genes harboring functional DNVs significantly overlap with functional/disease gene sets known to be involved in ASD etiology, including FMRP targets and synaptic formation and transcriptional regulation genes. We grouped the probands into High-5HT and Normal-5HT groups based on normalized serotonin levels, and used network-based gene set enrichment analysis (NGSEA) to identify novel hyperserotonemia-related ASD genes based on LoF and missense DNVs. We found enrichment in the High-5HT group for a gene network module (DAWN-1) previously implicated in ASD, and this points to the TGF-beta pathway and cell junction processes. Through analysis of rare recessively acting variants (RAVs), we also found that rare compound heterozygotes (CHs) in the High-5HT group were enriched for loci in an ASD-associated gene set. Finally, we carried out rare variant group-wise transmission disequilibrium tests (gTDT) and observed significant association of rare variants in genes encoding a subset of the serotonin pathway with ASD. CONCLUSIONS: Our study identified USP15 as a novel gene implicated in ASD based on recurrent DNVs. It also demonstrates the potential value of 5-HT as an effective endophenotype for gene discovery in ASD, and the effectiveness of this strategy needs to be further explored in studies of larger sample sizes. En ligne : http://dx.doi.org/10.1186/s13229-017-0130-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism [Texte imprimé et/ou numérique] / R. CHEN, Auteur ; L. K. DAVIS, Auteur ; S. GUTER, Auteur ; Q. WEI, Auteur ; S. JACOB, Auteur ; M. H. POTTER, Auteur ; Nancy J. COX, Auteur ; Edwin H. Jr COOK, Auteur ; J. S. SUTCLIFFE, Auteur ; B. LI, Auteur . - 14p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 14p. Mots-clés : Autism Spectrum Disorder/*genetics/metabolism  Endophenotypes/blood  Exome  Female  Forkhead Transcription Factors/*genetics  Genetic Predisposition to Disease  Humans  Jumonji Domain-Containing Histone Demethylases/*genetics  Male  *Mutation  Nuclear Proteins/*genetics  Repressor Proteins/*genetics  Sequence Analysis, DNA/methods  Serotonin/*blood  Signal Transduction  Ubiquitin-Specific Proteases/*genetics  *5-ht  *Autism  *Autism spectrum disorder  *Compound heterozygotes  *De novo mutation  *Endophenotype  *Group-wise transmission/disequilibrium test  *Hyperserotonemia  *Rare variants  *Serotonin  *Whole exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown. METHODS: In this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parent-proband trios with most (107) probands having 5-HT measurements. RESULTS: Combined with published ASD DNVs, we identified USP15 as having recurrent de novo loss of function mutations and discovered evidence supporting two other known genes with recurrent DNVs (FOXP1 and KDM5B). Genes harboring functional DNVs significantly overlap with functional/disease gene sets known to be involved in ASD etiology, including FMRP targets and synaptic formation and transcriptional regulation genes. We grouped the probands into High-5HT and Normal-5HT groups based on normalized serotonin levels, and used network-based gene set enrichment analysis (NGSEA) to identify novel hyperserotonemia-related ASD genes based on LoF and missense DNVs. We found enrichment in the High-5HT group for a gene network module (DAWN-1) previously implicated in ASD, and this points to the TGF-beta pathway and cell junction processes. Through analysis of rare recessively acting variants (RAVs), we also found that rare compound heterozygotes (CHs) in the High-5HT group were enriched for loci in an ASD-associated gene set. Finally, we carried out rare variant group-wise transmission disequilibrium tests (gTDT) and observed significant association of rare variants in genes encoding a subset of the serotonin pathway with ASD. CONCLUSIONS: Our study identified USP15 as a novel gene implicated in ASD based on recurrent DNVs. It also demonstrates the potential value of 5-HT as an effective endophenotype for gene discovery in ASD, and the effectiveness of this strategy needs to be further explored in studies of larger sample sizes. En ligne : http://dx.doi.org/10.1186/s13229-017-0130-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

An atlas of genetic correlations between gestational age and common psychiatric disorders / Yao YAO in Autism Research, 15-6 (June 2022)  

Public ISBD [article]  inAutism Research > 15-6 (June 2022) . - p.1008-1017 Titre : An atlas of genetic correlations between gestational age and common psychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : Yao YAO, Auteur ; Chun'e LI, Auteur ; Peilin MENG, Auteur ; Bolun CHENG, Auteur ; Shiqiang CHENG, Auteur ; Li LIU, Auteur ; Xuena YANG, Auteur ; Yumeng JIA, Auteur ; Yan WEN, Auteur ; Feng ZHANG, Auteur Article en page(s) : p.1008-1017 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  Autism Spectrum Disorder/genetics  Depressive Disorder, Major/genetics  Female  Genetic Predisposition to Disease  Genome-Wide Association Study  Gestational Age  Humans  Infant, Newborn  Mendelian Randomization Analysis  Premature Birth/genetics  Proteomics  genetic correlation  linkage disequilibrium score regression  psychiatric disorders Index. décimale : PER Périodiques Résumé : We aim to systematically explore the potential genetic correlations between five major psychiatric disorders and gestational ages. Genome-wide association study (GWAS) summary datasets of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BD), schizophrenia (SCZ) and major depressive disorder (MDD) in discovery were downloaded from the Psychiatric GWAS Consortium (PGC) website. Suggestive (Raw p? En ligne : http://dx.doi.org/10.1002/aur.2719 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] An atlas of genetic correlations between gestational age and common psychiatric disorders [Texte imprimé et/ou numérique] / Yao YAO, Auteur ; Chun'e LI, Auteur ; Peilin MENG, Auteur ; Bolun CHENG, Auteur ; Shiqiang CHENG, Auteur ; Li LIU, Auteur ; Xuena YANG, Auteur ; Yumeng JIA, Auteur ; Yan WEN, Auteur ; Feng ZHANG, Auteur . - p.1008-1017. Langues : Anglais (eng) in Autism Research > 15-6 (June 2022) . - p.1008-1017 Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  Autism Spectrum Disorder/genetics  Depressive Disorder, Major/genetics  Female  Genetic Predisposition to Disease  Genome-Wide Association Study  Gestational Age  Humans  Infant, Newborn  Mendelian Randomization Analysis  Premature Birth/genetics  Proteomics  genetic correlation  linkage disequilibrium score regression  psychiatric disorders Index. décimale : PER Périodiques Résumé : We aim to systematically explore the potential genetic correlations between five major psychiatric disorders and gestational ages. Genome-wide association study (GWAS) summary datasets of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BD), schizophrenia (SCZ) and major depressive disorder (MDD) in discovery were downloaded from the Psychiatric GWAS Consortium (PGC) website. Suggestive (Raw p? En ligne : http://dx.doi.org/10.1002/aur.2719 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Attention to audiovisual speech does not facilitate language acquisition in infants with familial history of autism / Katarzyna CHAWARSKA in Journal of Child Psychology and Psychiatry, 63-12 (December 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-12 (December 2022) . - p.1466-1476 Titre : Attention to audiovisual speech does not facilitate language acquisition in infants with familial history of autism Type de document : Texte imprimé et/ou numérique Auteurs : Katarzyna CHAWARSKA, Auteur ; David LEWKOWICZ, Auteur ; Hannah FEINER, Auteur ; Suzanne MACARI, Auteur ; Angelina VERNETTI, Auteur Article en page(s) : p.1466-1476 Langues : Anglais (eng) Mots-clés : Infant  Child  Humans  Speech  Autistic Disorder  Genetic Predisposition to Disease  Language Development  Language Development Disorders  Autism Spectrum Disorder  Infancy  attention  audiovisual speech  autism  eye-tracking Index. décimale : PER Périodiques Résumé : BACKGROUND: Due to familial liability, siblings of children with ASD exhibit elevated risk for language delays. The processes contributing to language delays in this population remain unclear. METHODS: Considering well-established links between attention to dynamic audiovisual cues inherent in a speaker's face and speech processing, we investigated if attention to a speaker's face and mouth differs in 12-month-old infants at high familial risk for ASD but without ASD diagnosis (hr-sib; n=91) and in infants at low familial risk (lr-sib; n=62) for ASD and whether attention at 12 months predicts language outcomes at 18 months. RESULTS: At 12 months, hr-sib and lr-sib infants did not differ in attention to face (p = .14), mouth preference (p = .30), or in receptive and expressive language scores (p = .36, p = .33). At 18 months, the hr-sib infants had lower receptive (p = .01) but not expressive (p = .84) language scores than the lr-sib infants. In the lr-sib infants, greater attention to the face (p = .022) and a mouth preference (p = .025) contributed to better language outcomes at 18 months. In the hr-sib infants, neither attention to the face nor a mouth preference was associated with language outcomes at 18 months. CONCLUSIONS: Unlike low-risk infants, high-risk infants do not appear to benefit from audiovisual prosodic and speech cues in the service of language acquisition despite intact attention to these cues. We propose that impaired processing of audiovisual cues may constitute the link between genetic risk factors and poor language outcomes observed across the autism risk spectrum and may represent a promising endophenotype in autism. En ligne : http://dx.doi.org/10.1111/jcpp.13595 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490 [article] Attention to audiovisual speech does not facilitate language acquisition in infants with familial history of autism [Texte imprimé et/ou numérique] / Katarzyna CHAWARSKA, Auteur ; David LEWKOWICZ, Auteur ; Hannah FEINER, Auteur ; Suzanne MACARI, Auteur ; Angelina VERNETTI, Auteur . - p.1466-1476. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-12 (December 2022) . - p.1466-1476 Mots-clés : Infant  Child  Humans  Speech  Autistic Disorder  Genetic Predisposition to Disease  Language Development  Language Development Disorders  Autism Spectrum Disorder  Infancy  attention  audiovisual speech  autism  eye-tracking Index. décimale : PER Périodiques Résumé : BACKGROUND: Due to familial liability, siblings of children with ASD exhibit elevated risk for language delays. The processes contributing to language delays in this population remain unclear. METHODS: Considering well-established links between attention to dynamic audiovisual cues inherent in a speaker's face and speech processing, we investigated if attention to a speaker's face and mouth differs in 12-month-old infants at high familial risk for ASD but without ASD diagnosis (hr-sib; n=91) and in infants at low familial risk (lr-sib; n=62) for ASD and whether attention at 12 months predicts language outcomes at 18 months. RESULTS: At 12 months, hr-sib and lr-sib infants did not differ in attention to face (p = .14), mouth preference (p = .30), or in receptive and expressive language scores (p = .36, p = .33). At 18 months, the hr-sib infants had lower receptive (p = .01) but not expressive (p = .84) language scores than the lr-sib infants. In the lr-sib infants, greater attention to the face (p = .022) and a mouth preference (p = .025) contributed to better language outcomes at 18 months. In the hr-sib infants, neither attention to the face nor a mouth preference was associated with language outcomes at 18 months. CONCLUSIONS: Unlike low-risk infants, high-risk infants do not appear to benefit from audiovisual prosodic and speech cues in the service of language acquisition despite intact attention to these cues. We propose that impaired processing of audiovisual cues may constitute the link between genetic risk factors and poor language outcomes observed across the autism risk spectrum and may represent a promising endophenotype in autism. En ligne : http://dx.doi.org/10.1111/jcpp.13595 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490

Brain structural trajectories in youth at familial risk for schizophrenia or bipolar disorder according to development of psychosis spectrum symptoms / G. SUGRANYES in Journal of Child Psychology and Psychiatry, 62-6 (June 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-6 (June 2021) . - p.780-789 Titre : Brain structural trajectories in youth at familial risk for schizophrenia or bipolar disorder according to development of psychosis spectrum symptoms Type de document : Texte imprimé et/ou numérique Auteurs : G. SUGRANYES, Auteur ; E. DE LA SERNA, Auteur ; D. ILZARBE, Auteur ; J. C. PARIENTE, Auteur ; R. BORRAS, Auteur ; S. ROMERO, Auteur ; M. ROSA, Auteur ; I. BAEZA, Auteur ; M. D. MORENO, Auteur ; M. BERNARDO, Auteur ; E. VIETA, Auteur ; Josefina CASTRO-FORNIELES, Auteur Article en page(s) : p.780-789 Langues : Anglais (eng) Mots-clés : Adolescent  Bipolar Disorder/diagnostic imaging  Brain/diagnostic imaging  Cross-Sectional Studies  Genetic Predisposition to Disease  Humans  Magnetic Resonance Imaging  Psychotic Disorders/diagnostic imaging  Schizophrenia/diagnostic imaging/genetics  High-risk studies  bipolar  psychosis  schizophrenia  structural MRI Index. décimale : PER Périodiques Résumé : BACKGROUND: The evaluation of child and adolescent offspring of patients with schizophrenia (SzO) or bipolar disorder (BpO) may help understand changes taking place in the brain in individuals at heightened risk for disease during a key developmental period. METHODS: One hundred twenty-eight individuals (33 SzO and 46 BpO, considered jointly as 'Familial High Risk' (FHR), and 49 controls) aged 6-17 years underwent clinical, cognitive and neuroimaging assessment at baseline, 2- and 4-year follow-up. Twenty FHR participants (11 SzO and 9 BpO) developed psychotic spectrum symptoms during follow-up, while 59 FHR participants did not. Magnetic resonance imaging was performed on a 3Tesla scanner; cortical surface reconstruction was applied to measure cortical thickness, surface area and grey matter volume. RESULTS: FHR participants who developed psychotic spectrum symptoms over time showed greater time-related mean cortical thinning than those who did not and than controls. By subgroups, this effect was present in both BpO and SzO in the occipital cortex. At baseline, FHR participants who developed psychotic spectrum symptoms over time had smaller total surface area and grey matter volume than those who did not and than controls. Over time, all FHR participants showed less longitudinal decrease in surface area than controls. In those who developed psychotic spectrum symptoms over time, this effect was driven by BpO, while in those who did not, this was due to SzO, who also showed less grey matter volume reduction. CONCLUSION: The emergence of psychotic spectrum symptoms in FHR was indexed by smaller cross-sectional surface area and progressive cortical thinning. Relative preservation of surface area over time may signal different processes according to familial risk. These findings lay the foundation for future studies aimed at stratification of FHR youth. En ligne : http://dx.doi.org/10.1111/jcpp.13321 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Brain structural trajectories in youth at familial risk for schizophrenia or bipolar disorder according to development of psychosis spectrum symptoms [Texte imprimé et/ou numérique] / G. SUGRANYES, Auteur ; E. DE LA SERNA, Auteur ; D. ILZARBE, Auteur ; J. C. PARIENTE, Auteur ; R. BORRAS, Auteur ; S. ROMERO, Auteur ; M. ROSA, Auteur ; I. BAEZA, Auteur ; M. D. MORENO, Auteur ; M. BERNARDO, Auteur ; E. VIETA, Auteur ; Josefina CASTRO-FORNIELES, Auteur . - p.780-789. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-6 (June 2021) . - p.780-789 Mots-clés : Adolescent  Bipolar Disorder/diagnostic imaging  Brain/diagnostic imaging  Cross-Sectional Studies  Genetic Predisposition to Disease  Humans  Magnetic Resonance Imaging  Psychotic Disorders/diagnostic imaging  Schizophrenia/diagnostic imaging/genetics  High-risk studies  bipolar  psychosis  schizophrenia  structural MRI Index. décimale : PER Périodiques Résumé : BACKGROUND: The evaluation of child and adolescent offspring of patients with schizophrenia (SzO) or bipolar disorder (BpO) may help understand changes taking place in the brain in individuals at heightened risk for disease during a key developmental period. METHODS: One hundred twenty-eight individuals (33 SzO and 46 BpO, considered jointly as 'Familial High Risk' (FHR), and 49 controls) aged 6-17 years underwent clinical, cognitive and neuroimaging assessment at baseline, 2- and 4-year follow-up. Twenty FHR participants (11 SzO and 9 BpO) developed psychotic spectrum symptoms during follow-up, while 59 FHR participants did not. Magnetic resonance imaging was performed on a 3Tesla scanner; cortical surface reconstruction was applied to measure cortical thickness, surface area and grey matter volume. RESULTS: FHR participants who developed psychotic spectrum symptoms over time showed greater time-related mean cortical thinning than those who did not and than controls. By subgroups, this effect was present in both BpO and SzO in the occipital cortex. At baseline, FHR participants who developed psychotic spectrum symptoms over time had smaller total surface area and grey matter volume than those who did not and than controls. Over time, all FHR participants showed less longitudinal decrease in surface area than controls. In those who developed psychotic spectrum symptoms over time, this effect was driven by BpO, while in those who did not, this was due to SzO, who also showed less grey matter volume reduction. CONCLUSION: The emergence of psychotic spectrum symptoms in FHR was indexed by smaller cross-sectional surface area and progressive cortical thinning. Relative preservation of surface area over time may signal different processes according to familial risk. These findings lay the foundation for future studies aimed at stratification of FHR youth. En ligne : http://dx.doi.org/10.1111/jcpp.13321 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings / K. OHASHI in Journal of Autism and Developmental Disorders, 51-12 (December 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662 Titre : Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings Type de document : Texte imprimé et/ou numérique Auteurs : K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur Article en page(s) : p.4655-4662 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Comparative Genomic Hybridization  DNA Copy Number Variations  Genetic Predisposition to Disease  Genetic Testing  Genomics  Humans  Autism spectrum disorder  Genetic analysis  Microarray comparative genomic hybridization  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 [article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings [Texte imprimé et/ou numérique] / K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur . - p.4655-4662. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662 Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Comparative Genomic Hybridization  DNA Copy Number Variations  Genetic Predisposition to Disease  Genetic Testing  Genomics  Humans  Autism spectrum disorder  Genetic analysis  Microarray comparative genomic hybridization  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454

Genetic Advances in Autism / A. THAPAR in Journal of Autism and Developmental Disorders, 51-12 (December 2021)  

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Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children / M. H. RAHBAR in Journal of Autism and Developmental Disorders, 51-6 (June 2021)  

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Quantitative autistic trait measurements index background genetic risk for ASD in Hispanic families / J. PAGE in Molecular Autism, 7 (2016)  

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Research Review: How to interpret associations between polygenic scores, environmental risks, and phenotypes / Jean-Baptiste PINGAULT in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)  

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Unique prediction of developmental psychopathology from genetic and familial risk / Robert J. LOUGHNAN in Journal of Child Psychology and Psychiatry, 63-12 (December 2022)  

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