A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders / Takeshi SAKURAI in Autism Research, 1-4 (August 2008)  

Public ISBD [article]  inAutism Research > 1-4 (August 2008) . - p.251-257 Titre : A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Takeshi SAKURAI, Auteur ; Jennifer REICHERT, Auteur ; Joseph D. BUXBAUM, Auteur ; Ellen J. HOFFMAN, Auteur ; Guiqing CAI, Auteur ; Hywel B. JONES, Auteur ; Malek FAHAM, Auteur Année de publication : 2008 Article en page(s) : p.251-257 Langues : Anglais (eng) Mots-clés : resequencing rare-variants serotonin rigid-compulsive-behavior Index. décimale : PER Périodiques Résumé : In the current study we explored the hypothesis that rare variants in SLC6A4 contribute to autism susceptibility and to rigid-compulsive behaviors in autism. We made use of a large number of unrelated cases with autism spectrum disorders (350) and controls (420) and screened for rare exonic variants in SLC6A4 by a high-throughput method followed by sequencing. We observed no difference in the frequency of such variants in the two groups, irrespective of how we defined the rare variants. Furthermore, we did not observe an association of rare coding variants in SLC6A4 with rigid-compulsive traits scores in the cases. These results do not support a significant role for rare coding variants in SLC6A4 in autism spectrum disorders, nor do they support a significant role for SLC6A4 in rigid-compulsive traits in these disorders. En ligne : http://dx.doi.org/10.1002/aur.30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932 [article] A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders [Texte imprimé et/ou numérique] / Takeshi SAKURAI, Auteur ; Jennifer REICHERT, Auteur ; Joseph D. BUXBAUM, Auteur ; Ellen J. HOFFMAN, Auteur ; Guiqing CAI, Auteur ; Hywel B. JONES, Auteur ; Malek FAHAM, Auteur . - 2008 . - p.251-257. Langues : Anglais (eng) in Autism Research > 1-4 (August 2008) . - p.251-257 Mots-clés : resequencing rare-variants serotonin rigid-compulsive-behavior Index. décimale : PER Périodiques Résumé : In the current study we explored the hypothesis that rare variants in SLC6A4 contribute to autism susceptibility and to rigid-compulsive behaviors in autism. We made use of a large number of unrelated cases with autism spectrum disorders (350) and controls (420) and screened for rare exonic variants in SLC6A4 by a high-throughput method followed by sequencing. We observed no difference in the frequency of such variants in the two groups, irrespective of how we defined the rare variants. Furthermore, we did not observe an association of rare coding variants in SLC6A4 with rigid-compulsive traits scores in the cases. These results do not support a significant role for rare coding variants in SLC6A4 in autism spectrum disorders, nor do they support a significant role for SLC6A4 in rigid-compulsive traits in these disorders. En ligne : http://dx.doi.org/10.1002/aur.30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932

Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders / Guiqing CAI

Public ISBD in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Titre : Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Guiqing CAI, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2013 Importance : p.169-177 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : High-risk gene mutations and copy number variants have been identified for ASD but many hundreds of genes and loci remain to be identified. Next-generation sequencing (NGS) will provide a cost-effective means of identifying additional ASD risk loci. In this chapter, we introduce current NGS platforms and describe recent NGS successes in characterizing human genomic variation, identifying genetic variation in human disease, and functional analyses of the human genome, including applications around the transcriptome, epigenome and interactome. Ongoing whole-exome and whole-genome sequencing projects in thousands of ASD are summarized as well, which are already identifying new ASD genes. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Guiqing CAI, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - p.169-177. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : High-risk gene mutations and copy number variants have been identified for ASD but many hundreds of genes and loci remain to be identified. Next-generation sequencing (NGS) will provide a cost-effective means of identifying additional ASD risk loci. In this chapter, we introduce current NGS platforms and describe recent NGS successes in characterizing human genomic variation, identifying genetic variation in human disease, and functional analyses of the human genome, including applications around the transcriptome, epigenome and interactome. Ongoing whole-exome and whole-genome sequencing projects in thousands of ASD are summarized as well, which are already identifying new ASD genes. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

Exemplaires

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aucun exemplaire

No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set / Kristina ALLEN-BRADY in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.293-296 Titre : No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set Type de document : Texte imprimé et/ou numérique Auteurs : Kristina ALLEN-BRADY, Auteur ; Guiqing CAI, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2011 Article en page(s) : p.293-296 Langues : Anglais (eng) Mots-clés : behavioral analysis of animal models  developmental neurobiology  sex differences  testosterone  androgen receptor Index. décimale : PER Périodiques Résumé : Finding predisposition genes for Autism Spectrum Disorder (ASD) has proven challenging, and new methods are needed to aid the process. Using pedigree structure as a strategy to identify ASD predisposition genes, we previously performed a genome-wide linkage scan of 86 selected families from the Autism Resource Exchange (AGRE) that appeared to inherit ASD in a dominant manner. We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD. In this follow-up study, we sequenced the coding regions of the IL1RAPL1 gene in 14 male cases representing one case from each pedigree that showed at least nominal linkage evidence on per pedigree basis to the chromosome X region. We observed no deleterious mutations or deletions in the IL1RAPL1 gene in these 14 ASD cases. A SNP was identified in exon 2 in five cases and a variant of unknown significance was identified in intron 6 in a single case. In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region. En ligne : http://dx.doi.org/10.1002/aur.195 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 [article] No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set [Texte imprimé et/ou numérique] / Kristina ALLEN-BRADY, Auteur ; Guiqing CAI, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Joseph D. BUXBAUM, Auteur . - 2011 . - p.293-296. Langues : Anglais (eng) in Autism Research > 4-4 (August 2011) . - p.293-296 Mots-clés : behavioral analysis of animal models  developmental neurobiology  sex differences  testosterone  androgen receptor Index. décimale : PER Périodiques Résumé : Finding predisposition genes for Autism Spectrum Disorder (ASD) has proven challenging, and new methods are needed to aid the process. Using pedigree structure as a strategy to identify ASD predisposition genes, we previously performed a genome-wide linkage scan of 86 selected families from the Autism Resource Exchange (AGRE) that appeared to inherit ASD in a dominant manner. We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD. In this follow-up study, we sequenced the coding regions of the IL1RAPL1 gene in 14 male cases representing one case from each pedigree that showed at least nominal linkage evidence on per pedigree basis to the chromosome X region. We observed no deleterious mutations or deletions in the IL1RAPL1 gene in these 14 ASD cases. A SNP was identified in exon 2 in five cases and a variant of unknown significance was identified in intron 6 in a single case. In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region. En ligne : http://dx.doi.org/10.1002/aur.195 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency / Latha V. SOORYA in Molecular Autism, (June 2013)  

Public ISBD [article]  inMolecular Autism > (June 2013) . - 35 p. Titre : Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency Type de document : Texte imprimé et/ou numérique Auteurs : Latha V. SOORYA, Auteur ; Alexander KOLEVZON, Auteur ; Jessica ZWEIFACH, Auteur ; Teresa LIM, Auteur ; Yuriy DOBRY, Auteur ; Lily SCHWARTZ, Auteur ; Yitzchak FRANK, Auteur ; A. WANG, Auteur ; Guiqing CAI, Auteur ; Elena PARKHOMENKO, Auteur ; Danielle B. HALPERN, Auteur ; David GRODBERG, Auteur ; Benjamin ANGARITA, Auteur ; Judith WILLNER, Auteur ; Amy YANG, Auteur ; Roberto CANITANO, Auteur ; William CHAPLIN, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2013 Article en page(s) : 35 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND:22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal to provide a comprehensive picture of the medical and behavioral profile of the syndrome.METHODS:A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G.RESULTS:Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency, including ASD, seizures and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic features.CONCLUSIONS:This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in SHANK3 deficiency, and highlights the predominance of autism spectrum disorder in the syndrome. Limitations of existing evaluation tools are discussed, along with the need for natural history studies to inform clinical monitoring and treatment development in SHANK3 deficiency. En ligne : http://dx.doi.org/10.1186/2040-2392-4-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency [Texte imprimé et/ou numérique] / Latha V. SOORYA, Auteur ; Alexander KOLEVZON, Auteur ; Jessica ZWEIFACH, Auteur ; Teresa LIM, Auteur ; Yuriy DOBRY, Auteur ; Lily SCHWARTZ, Auteur ; Yitzchak FRANK, Auteur ; A. WANG, Auteur ; Guiqing CAI, Auteur ; Elena PARKHOMENKO, Auteur ; Danielle B. HALPERN, Auteur ; David GRODBERG, Auteur ; Benjamin ANGARITA, Auteur ; Judith WILLNER, Auteur ; Amy YANG, Auteur ; Roberto CANITANO, Auteur ; William CHAPLIN, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - 35 p. Langues : Anglais (eng) in Molecular Autism > (June 2013) . - 35 p. Index. décimale : PER Périodiques Résumé : BACKGROUND:22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal to provide a comprehensive picture of the medical and behavioral profile of the syndrome.METHODS:A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G.RESULTS:Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency, including ASD, seizures and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic features.CONCLUSIONS:This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in SHANK3 deficiency, and highlights the predominance of autism spectrum disorder in the syndrome. Limitations of existing evaluation tools are discussed, along with the need for natural history studies to inform clinical monitoring and treatment development in SHANK3 deficiency. En ligne : http://dx.doi.org/10.1186/2040-2392-4-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

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