Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation / Cary M. WRIGHT in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1408-1411 Titre : Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation Type de document : texte imprimé Auteurs : Cary M. WRIGHT, Auteur ; Stephen GUTER, Auteur ; Edwin H. Jr COOK, Auteur Article en page(s) : p.1408-1411 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-021-05032-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation [texte imprimé] / Cary M. WRIGHT, Auteur ; Stephen GUTER, Auteur ; Edwin H. Jr COOK, Auteur . - p.1408-1411. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1408-1411 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-021-05032-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? / Lauren C. SHUFFREY in Autism Research, 10-8 (August 2017)  

Public ISBD [article]  inAutism Research > 10-8 (August 2017) . - p.1417-1423 Titre : Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? Type de document : texte imprimé Auteurs : Lauren C. SHUFFREY, Auteur ; Stephen GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1417-1423 Langues : Anglais (eng) Mots-clés : serotonin  5-HT  autism spectrum disorder  hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P = 0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310 [article] Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? [texte imprimé] / Lauren C. SHUFFREY, Auteur ; Stephen GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1417-1423. Langues : Anglais (eng) in Autism Research > 10-8 (August 2017) . - p.1417-1423 Mots-clés : serotonin  5-HT  autism spectrum disorder  hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P = 0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism / Rui 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 Auteurs : Rui CHEN, Auteur ; Lea K. DAVIS, Auteur ; Stephen GUTER, Auteur ; Qiang WEI, Auteur ; Suma JACOB, Auteur ; Melissa H. POTTER, Auteur ; Nancy J. COX, Auteur ; Edwin H. Jr COOK, Auteur ; James S. SUTCLIFFE, Auteur ; Bingshan 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] / Rui CHEN, Auteur ; Lea K. DAVIS, Auteur ; Stephen GUTER, Auteur ; Qiang WEI, Auteur ; Suma JACOB, Auteur ; Melissa H. POTTER, Auteur ; Nancy J. COX, Auteur ; Edwin H. Jr COOK, Auteur ; James S. SUTCLIFFE, Auteur ; Bingshan 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

A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders / Soo-Jeong KIM in Molecular Autism, (May 2011)  

Public ISBD [article]  inMolecular Autism > (May 2011) . - 48 p. Titre : A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders Type de document : texte imprimé Auteurs : Soo-Jeong KIM, Auteur ; Raquel M. SILVA, Auteur ; Cindi G. FLORES, Auteur ; Suma JACOB, Auteur ; Stephen GUTER, Auteur ; Gregory VALCANTE, Auteur ; Annette M. ZAYTOUN, Auteur ; Edwin H. Jr COOK, Auteur ; Judith A. BADNER, Auteur Année de publication : 2011 Article en page(s) : 48 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background SLC25A12 was previously identified in a linkage directed association analysis in autism. In this study, we investigated the relationship between three SLC25A12 single nucleotide polymorphisms (SNPs) (rs2056202, rs908670 and rs2292813) and restricted repetitive behavior (RRB) traits in autism spectrum disorders (ASDs), based on a positive correlation between the G allele of rs2056202 and an RRB subdomain score on the Autism Diagnostic Interview-Revised (ADI-R). Methods We used the Repetitive Behavior Scale-Revised (RBS-R) as a quantitative RRB measure, and conducted linear regression analyses for individual SNPs and a previously identified haplotype (rs2056202-rs2292813). We examined associations in our UIC-UF sample (179 unrelated individuals), and then attempted to replicate our findings in the Simons Simplex Collection (SSC) sample (720 families). Results In the UIC-UF sample, three RBS-R scores (ritualistic/sameness/sum) showed positive associations with the A allele of rs2292813 (p=0.006-0.012), and with rs2056202-rs2292813 haplotype (omnibus test p=0.025-0.040). The SSC sample revealed positive associations between the A allele of rs2056202 and four RBS-R scores (stereotyped/sameness/restricted/sum, p=0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped/self-injurious/sum, p=0.003-0.015), and between rs2056202-rs2292813 haplotype and RBS-R scores (stereotyped/self-injurious/compulsive/sameness/restricted/sum, omnibus test p=0.002-0.028). Taken together, the A alleles of rs2056202 and rs2292813 were consistently positively associated with RRB traits in both UIC-UF and SSC samples, but the most significant SNP-phenotype association varied in each dataset. Conclusions This study confirmed an association between SLC25A12 and RRB traits in ASDs, but the direction of the association was different from the initial study. This may be because of the examined SLC25A12 SNPs being in linkage disequilibrium (LD) with another risk allele as well as genetic/phenotypic heterogeneity of the ASD samples across studies. En ligne : http://dx.doi.org/10.1186/2040-2392-2-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=131 [article] A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders [texte imprimé] / Soo-Jeong KIM, Auteur ; Raquel M. SILVA, Auteur ; Cindi G. FLORES, Auteur ; Suma JACOB, Auteur ; Stephen GUTER, Auteur ; Gregory VALCANTE, Auteur ; Annette M. ZAYTOUN, Auteur ; Edwin H. Jr COOK, Auteur ; Judith A. BADNER, Auteur . - 2011 . - 48 p. Langues : Anglais (eng) in Molecular Autism > (May 2011) . - 48 p. Index. décimale : PER Périodiques Résumé : Background SLC25A12 was previously identified in a linkage directed association analysis in autism. In this study, we investigated the relationship between three SLC25A12 single nucleotide polymorphisms (SNPs) (rs2056202, rs908670 and rs2292813) and restricted repetitive behavior (RRB) traits in autism spectrum disorders (ASDs), based on a positive correlation between the G allele of rs2056202 and an RRB subdomain score on the Autism Diagnostic Interview-Revised (ADI-R). Methods We used the Repetitive Behavior Scale-Revised (RBS-R) as a quantitative RRB measure, and conducted linear regression analyses for individual SNPs and a previously identified haplotype (rs2056202-rs2292813). We examined associations in our UIC-UF sample (179 unrelated individuals), and then attempted to replicate our findings in the Simons Simplex Collection (SSC) sample (720 families). Results In the UIC-UF sample, three RBS-R scores (ritualistic/sameness/sum) showed positive associations with the A allele of rs2292813 (p=0.006-0.012), and with rs2056202-rs2292813 haplotype (omnibus test p=0.025-0.040). The SSC sample revealed positive associations between the A allele of rs2056202 and four RBS-R scores (stereotyped/sameness/restricted/sum, p=0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped/self-injurious/sum, p=0.003-0.015), and between rs2056202-rs2292813 haplotype and RBS-R scores (stereotyped/self-injurious/compulsive/sameness/restricted/sum, omnibus test p=0.002-0.028). Taken together, the A alleles of rs2056202 and rs2292813 were consistently positively associated with RRB traits in both UIC-UF and SSC samples, but the most significant SNP-phenotype association varied in each dataset. Conclusions This study confirmed an association between SLC25A12 and RRB traits in ASDs, but the direction of the association was different from the initial study. This may be because of the examined SLC25A12 SNPs being in linkage disequilibrium (LD) with another risk allele as well as genetic/phenotypic heterogeneity of the ASD samples across studies. En ligne : http://dx.doi.org/10.1186/2040-2392-2-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=131

Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome / Cindi G. FLORES in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Titre : Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome Type de document : texte imprimé Auteurs : Cindi G. FLORES, Auteur ; Gregory VALCANTE, Auteur ; Stephen GUTER, Auteur ; Annette ZAYTOUN, Auteur ; Emily WRAY, Auteur ; Lindsay BELL, Auteur ; Suma JACOB, Auteur ; Mark H. LEWIS, Auteur ; Daniel J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur Article en page(s) : p.316-24 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome [texte imprimé] / Cindi G. FLORES, Auteur ; Gregory VALCANTE, Auteur ; Stephen GUTER, Auteur ; Annette ZAYTOUN, Auteur ; Emily WRAY, Auteur ; Lindsay BELL, Auteur ; Suma JACOB, Auteur ; Mark H. LEWIS, Auteur ; Daniel J. DRISCOLL, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur . - p.316-24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.316-24 Index. décimale : PER Périodiques Résumé : Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader-Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score >/=15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam's) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score >/=15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score >/=15. En ligne : http://dx.doi.org/10.1007/s11689-011-9094-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Vocabulary comprehension in adults with fragile X syndrome (FXS) / Anne HOFFMANN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder / Elizabeth AARON in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

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