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Auteur Elena MAESTRINI |
Documents disponibles écrits par cet auteur (2)
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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)
[article]
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
in Autism Research > 7-2 (April 2014) . - p.254-263[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 Lack of replication of previous autism spectrum disorder GWAS hits in European populations / Bàrbara TORRICO in Autism Research, 10-2 (February 2017)
[article]
Titre : Lack of replication of previous autism spectrum disorder GWAS hits in European populations Type de document : Texte imprimé et/ou numérique Auteurs : Bàrbara TORRICO, Auteur ; Andreas G. CHIOCCHETTI, Auteur ; Elena BACCHELLI, Auteur ; Elisabetta TRABETTI, Auteur ; Amaia HERVAS, Auteur ; Barbara FRANKE, Auteur ; Jan K. BUITELAAR, Auteur ; Nanda N. ROMMELSE, Auteur ; Afsheen YOUSAF, Auteur ; Eftichia DUKETIS, Auteur ; Christine M. FREITAG, Auteur ; Rafaela CABALLERO-ANDALUZ, Auteur ; Amalia MARTINEZ-MIR, Auteur ; Francisco G. SCHOLL, Auteur ; Marta RIBASES, Auteur ; ITAN, Auteur ; Agatino BATTAGLIA, Auteur ; Giovanni MALERBA, Auteur ; Richard DELORME, Auteur ; Marion BENABOU, Auteur ; Elena MAESTRINI, Auteur ; Thomas BOURGERON, Auteur ; Bru CORMAND, Auteur ; Claudio TOMA, Auteur Article en page(s) : p.202-211 Langues : Anglais (eng) Mots-clés : genome-wide association study replication autism spectrum disorder European populations MACROD2 SEMA5A MSNP1 Index. décimale : PER Périodiques Résumé : Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for association studies. During the last decade several genome-wide association studies (GWAS) have enabled the detection of a few plausible risk variants. The three main studies are family-based and pointed at SEMA5A (rs10513025), MACROD2 (rs4141463) and MSNP1 (rs4307059). In our study we attempted to replicate these GWAS hits using a case-control association study in five European populations of ASD patients and gender-matched controls, all Caucasians. Results showed no association of individual variants with ASD in any of the population groups considered or in the combined European sample. We performed a meta-analysis study across five European populations for rs10513025 (1,904 ASD cases and 2,674 controls), seven European populations for rs4141463 (2,855 ASD cases and 36,177 controls) and five European populations for rs4307059 (2,347 ASD cases and 2,764 controls). The results showed an odds ratio (OR) of 1.05 (95% CI?=?0.84–1.32) for rs10513025, 1.0002 (95% CI?=?0.93–1.08) for rs4141463 and 1.01 (95% CI?=?0.92–1.1) for rs4307059, with no significant P-values (rs10513025, P?=?0.73; rs4141463, P?=?0.95; rs4307059, P?=?0.9). No association was found when we considered either only high functioning autism (HFA), genders separately or only multiplex families. Ongoing GWAS projects with larger ASD cohorts will contribute to clarify the role of common variation in the disorder and will likely identify risk variants of modest effect not detected previously. En ligne : http://dx.doi.org/10.1002/aur.1662 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303
in Autism Research > 10-2 (February 2017) . - p.202-211[article] Lack of replication of previous autism spectrum disorder GWAS hits in European populations [Texte imprimé et/ou numérique] / Bàrbara TORRICO, Auteur ; Andreas G. CHIOCCHETTI, Auteur ; Elena BACCHELLI, Auteur ; Elisabetta TRABETTI, Auteur ; Amaia HERVAS, Auteur ; Barbara FRANKE, Auteur ; Jan K. BUITELAAR, Auteur ; Nanda N. ROMMELSE, Auteur ; Afsheen YOUSAF, Auteur ; Eftichia DUKETIS, Auteur ; Christine M. FREITAG, Auteur ; Rafaela CABALLERO-ANDALUZ, Auteur ; Amalia MARTINEZ-MIR, Auteur ; Francisco G. SCHOLL, Auteur ; Marta RIBASES, Auteur ; ITAN, Auteur ; Agatino BATTAGLIA, Auteur ; Giovanni MALERBA, Auteur ; Richard DELORME, Auteur ; Marion BENABOU, Auteur ; Elena MAESTRINI, Auteur ; Thomas BOURGERON, Auteur ; Bru CORMAND, Auteur ; Claudio TOMA, Auteur . - p.202-211.
Langues : Anglais (eng)
in Autism Research > 10-2 (February 2017) . - p.202-211
Mots-clés : genome-wide association study replication autism spectrum disorder European populations MACROD2 SEMA5A MSNP1 Index. décimale : PER Périodiques Résumé : Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for association studies. During the last decade several genome-wide association studies (GWAS) have enabled the detection of a few plausible risk variants. The three main studies are family-based and pointed at SEMA5A (rs10513025), MACROD2 (rs4141463) and MSNP1 (rs4307059). In our study we attempted to replicate these GWAS hits using a case-control association study in five European populations of ASD patients and gender-matched controls, all Caucasians. Results showed no association of individual variants with ASD in any of the population groups considered or in the combined European sample. We performed a meta-analysis study across five European populations for rs10513025 (1,904 ASD cases and 2,674 controls), seven European populations for rs4141463 (2,855 ASD cases and 36,177 controls) and five European populations for rs4307059 (2,347 ASD cases and 2,764 controls). The results showed an odds ratio (OR) of 1.05 (95% CI?=?0.84–1.32) for rs10513025, 1.0002 (95% CI?=?0.93–1.08) for rs4141463 and 1.01 (95% CI?=?0.92–1.1) for rs4307059, with no significant P-values (rs10513025, P?=?0.73; rs4141463, P?=?0.95; rs4307059, P?=?0.9). No association was found when we considered either only high functioning autism (HFA), genders separately or only multiplex families. Ongoing GWAS projects with larger ASD cohorts will contribute to clarify the role of common variation in the disorder and will likely identify risk variants of modest effect not detected previously. En ligne : http://dx.doi.org/10.1002/aur.1662 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303