A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma / Fabiola CERONI in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.254-263 Titre : A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma Type de document : Texte imprimé et/ou numérique Auteurs : Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur Article en page(s) : p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma [Texte imprimé et/ou numérique] / Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur . - p.254-263. in Autism Research > 7-2 (April 2014) . - p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program / Richard F. WINTLE in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.314 Titre : Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program Type de document : Texte imprimé et/ou numérique Auteurs : Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur Année de publication : 2011 Article en page(s) : p.314 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=142 [article] Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program [Texte imprimé et/ou numérique] / Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur . - 2011 . - p.314. Langues : Anglais (eng) in Autism Research > 4-4 (August 2011) . - p.314 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=142

A genotype resource for postmortem brain samples from the Autism Tissue Program / Richard F. WINTLE in Autism Research, 4-2 (April 2011)  

Public ISBD [article]  inAutism Research > 4-2 (April 2011) . - p.89-97 Titre : A genotype resource for postmortem brain samples from the Autism Tissue Program Type de document : Texte imprimé et/ou numérique Auteurs : Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur Année de publication : 2011 Article en page(s) : p.89-97 Langues : Anglais (eng) Mots-clés : autism  autism spectrum disorder  brain  brodmann area 19  copy number variation  genome-wide  microarray  single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized postmortem brain tissues. Researchers access these tissues through a peer-reviewed, project-based approval process, and obtain related clinical information from a secure, online informatics portal. However, few of these samples have DNA banked from other sources (such as a blood sample from the same individual), hindering genotype–phenotype correlation and interpretation of gene expression data derived from the banked brain tissue. Here, we describe an initiative to extract DNA from Brodmann Area 19, and genotype these samples using both the Affymetrix Genome-Wide Human SNP Array 6.0 and the Illumina Human1M-Duo DNA Analysis BeadChip genome-wide microarray technologies. We additionally verify reported gender, and infer ethnic background from the single nucleotide polymorphism data. We have also used a rigorous, multiple algorithm approach to identify genomic copy number variation (CNV) from these array data. Following an initial proof of principle study using two samples, 52 experimental samples, consisting of 27 subjects with confirmed or suspected autism and related disorders, 5 subjects with cytogenetically visible duplications of 15q, 2 with epilepsy and 18 age-matched normal controls were processed, yielding high-quality genotype data in all cases. The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community. En ligne : http://dx.doi.org/10.1002/aur.173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] A genotype resource for postmortem brain samples from the Autism Tissue Program [Texte imprimé et/ou numérique] / Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur . - 2011 . - p.89-97. Langues : Anglais (eng) in Autism Research > 4-2 (April 2011) . - p.89-97 Mots-clés : autism  autism spectrum disorder  brain  brodmann area 19  copy number variation  genome-wide  microarray  single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized postmortem brain tissues. Researchers access these tissues through a peer-reviewed, project-based approval process, and obtain related clinical information from a secure, online informatics portal. However, few of these samples have DNA banked from other sources (such as a blood sample from the same individual), hindering genotype–phenotype correlation and interpretation of gene expression data derived from the banked brain tissue. Here, we describe an initiative to extract DNA from Brodmann Area 19, and genotype these samples using both the Affymetrix Genome-Wide Human SNP Array 6.0 and the Illumina Human1M-Duo DNA Analysis BeadChip genome-wide microarray technologies. We additionally verify reported gender, and infer ethnic background from the single nucleotide polymorphism data. We have also used a rigorous, multiple algorithm approach to identify genomic copy number variation (CNV) from these array data. Following an initial proof of principle study using two samples, 52 experimental samples, consisting of 27 subjects with confirmed or suspected autism and related disorders, 5 subjects with cytogenetically visible duplications of 15q, 2 with epilepsy and 18 age-matched normal controls were processed, yielding high-quality genotype data in all cases. The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community. En ligne : http://dx.doi.org/10.1002/aur.173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders / Catarina T. CORREIA in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-14 Titre : Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Catarina T. CORREIA, Auteur ; Inês C. CONCEIÇÃO, Auteur ; Bárbara OLIVEIRA, Auteur ; Joana COELHO, Auteur ; Inês SOUSA, Auteur ; Ana F. SEQUEIRA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Susana MOUGA, Auteur ; Wendy ROBERTS, Auteur ; Kun GAO, Auteur ; Jennifer K. LOWE, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Susan WALKER, Auteur ; Christian R. MARSHALL, Auteur ; Dalila PINTO, Auteur ; John I. NURNBERGER, Auteur ; Stephen SCHERER, Auteur ; Daniel H. GESCHWIND, Auteur ; Guiomar OLIVEIRA, Auteur ; Astrid M. VICENTE, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. En ligne : http://dx.doi.org/10.1186/2040-2392-5-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders [Texte imprimé et/ou numérique] / Catarina T. CORREIA, Auteur ; Inês C. CONCEIÇÃO, Auteur ; Bárbara OLIVEIRA, Auteur ; Joana COELHO, Auteur ; Inês SOUSA, Auteur ; Ana F. SEQUEIRA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Susana MOUGA, Auteur ; Wendy ROBERTS, Auteur ; Kun GAO, Auteur ; Jennifer K. LOWE, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Susan WALKER, Auteur ; Christian R. MARSHALL, Auteur ; Dalila PINTO, Auteur ; John I. NURNBERGER, Auteur ; Stephen SCHERER, Auteur ; Daniel H. GESCHWIND, Auteur ; Guiomar OLIVEIRA, Auteur ; Astrid M. VICENTE, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-14 Index. décimale : PER Périodiques Résumé : Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. En ligne : http://dx.doi.org/10.1186/2040-2392-5-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses / Joseph D. BUXBAUM in Molecular Autism, (May 2014)  

Public ISBD [article]  inMolecular Autism > (May 2014) . - p.1-8 Titre : The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses Type de document : Texte imprimé et/ou numérique Auteurs : Joseph D. BUXBAUM, Auteur ; Nadia BOLSHAKOVA, Auteur ; Jessica M. BROWNFELD, Auteur ; Richard ANNEY, Auteur ; Patrick BENDER, Auteur ; Raphael BERNIER, Auteur ; Edwin H. Jr COOK, Auteur ; Hilary COON, Auteur ; Michael L. CUCCARO, Auteur ; Christine M. FREITAG, Auteur ; Joachim F. HALLMAYER, Auteur ; Daniel H. GESCHWIND, Auteur ; Sabine M. KLAUCK, Auteur ; John I. NURNBERGER, Auteur ; Guiomar OLIVEIRA, Auteur ; Dalila PINTO, Auteur ; Fritz POUSTKA, Auteur ; Stephen SCHERER, Auteur ; Andy SHIH, Auteur ; James S. SUTCLIFFE, Auteur ; Peter SZATMARI, Auteur ; Astrid M. VICENTE, Auteur ; Veronica VIELAND, Auteur ; Louise GALLAGHER, Auteur Article en page(s) : p.1-8 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses [Texte imprimé et/ou numérique] / Joseph D. BUXBAUM, Auteur ; Nadia BOLSHAKOVA, Auteur ; Jessica M. BROWNFELD, Auteur ; Richard ANNEY, Auteur ; Patrick BENDER, Auteur ; Raphael BERNIER, Auteur ; Edwin H. Jr COOK, Auteur ; Hilary COON, Auteur ; Michael L. CUCCARO, Auteur ; Christine M. FREITAG, Auteur ; Joachim F. HALLMAYER, Auteur ; Daniel H. GESCHWIND, Auteur ; Sabine M. KLAUCK, Auteur ; John I. NURNBERGER, Auteur ; Guiomar OLIVEIRA, Auteur ; Dalila PINTO, Auteur ; Fritz POUSTKA, Auteur ; Stephen SCHERER, Auteur ; Andy SHIH, Auteur ; James S. SUTCLIFFE, Auteur ; Peter SZATMARI, Auteur ; Astrid M. VICENTE, Auteur ; Veronica VIELAND, Auteur ; Louise GALLAGHER, Auteur . - p.1-8. Langues : Anglais (eng) in Molecular Autism > (May 2014) . - p.1-8 Index. décimale : PER Périodiques Résumé : There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

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