Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome / Joel FROHLICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 37 p. Titre : Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome Type de document : texte imprimé Auteurs : Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : 37 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome [texte imprimé] / Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur . - 37 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 37 p. Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1 / Noelle D. GERMAIN in Molecular Autism, (August 2014)  

Public ISBD [article]  inMolecular Autism > (August 2014) . - p.1-19 Titre : Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1 Type de document : texte imprimé Auteurs : Noelle D. GERMAIN, Auteur ; Pin-Fang CHEN, Auteur ; Alex M. PLOCIK, Auteur ; Heather GLATT-DEELEY, Auteur ; Judith BROWN, Auteur ; James J. FINK, Auteur ; Kaitlyn A. BOLDUC, Auteur ; Tiwanna M. ROBINSON, Auteur ; Eric S. LEVINE, Auteur ; Lawrence T. REITER, Auteur ; Brenton R. GRAVELEY, Auteur ; Marc LALANDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur Article en page(s) : p.1-19 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Duplications of the chromosome 15q11-q13.1 region are associated with an estimated 1 to 3% of all autism cases, making this copy number variation (CNV) one of the most frequent chromosome abnormalities associated with autism spectrum disorder (ASD). Several genes located within the 15q11-q13.1 duplication region including ubiquitin protein ligase E3A (UBE3A), the gene disrupted in Angelman syndrome (AS), are involved in neural function and may play important roles in the neurobehavioral phenotypes associated with chromosome 15q11-q13.1 duplication (Dup15q) syndrome. En ligne : http://dx.doi.org/10.1186/2040-2392-5-44 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1 [texte imprimé] / Noelle D. GERMAIN, Auteur ; Pin-Fang CHEN, Auteur ; Alex M. PLOCIK, Auteur ; Heather GLATT-DEELEY, Auteur ; Judith BROWN, Auteur ; James J. FINK, Auteur ; Kaitlyn A. BOLDUC, Auteur ; Tiwanna M. ROBINSON, Auteur ; Eric S. LEVINE, Auteur ; Lawrence T. REITER, Auteur ; Brenton R. GRAVELEY, Auteur ; Marc LALANDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur . - p.1-19. Langues : Anglais (eng) in Molecular Autism > (August 2014) . - p.1-19 Index. décimale : PER Périodiques Résumé : Duplications of the chromosome 15q11-q13.1 region are associated with an estimated 1 to 3% of all autism cases, making this copy number variation (CNV) one of the most frequent chromosome abnormalities associated with autism spectrum disorder (ASD). Several genes located within the 15q11-q13.1 duplication region including ubiquitin protein ligase E3A (UBE3A), the gene disrupted in Angelman syndrome (AS), are involved in neural function and may play important roles in the neurobehavioral phenotypes associated with chromosome 15q11-q13.1 duplication (Dup15q) syndrome. En ligne : http://dx.doi.org/10.1186/2040-2392-5-44 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome / Charlotte DISTEFANO in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Titre : Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome Type de document : texte imprimé Auteurs : Charlotte DISTEFANO, Auteur ; Amanda GULSRUD, Auteur ; Scott HUBERTY, Auteur ; Connie KASARI, Auteur ; Edwin COOK, Auteur ; Lawrence T. REITER, Auteur ; Ronald THIBERT, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome [texte imprimé] / Charlotte DISTEFANO, Auteur ; Amanda GULSRUD, Auteur ; Scott HUBERTY, Auteur ; Connie KASARI, Auteur ; Edwin COOK, Auteur ; Lawrence T. REITER, Auteur ; Ronald THIBERT, Auteur ; Shafali S. JESTE, Auteur . - p.19. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.19 Mots-clés : Adaptive functioning  Autism spectrum disorder  Duplication 15q syndrome  Intellectual disability  Social communication Index. décimale : PER Périodiques Résumé : BACKGROUND: One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy. METHODS: Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status. RESULTS: All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy. CONCLUSIONS: The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-016-9152-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples / Haley SCOLES in Molecular Autism, (December 2011)  

Public ISBD [article]  inMolecular Autism > (December 2011) . - 41 p. Titre : Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples Type de document : texte imprimé Auteurs : Haley SCOLES, Auteur ; Nora URRACA, Auteur ; Samuel CHADWICK, Auteur ; Lawrence T. REITER, Auteur ; Janine M. LASALLE, Auteur Année de publication : 2011 Article en page(s) : 41 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND:Duplications of chromosome 15q11-q13 account for ~3% of autism cases. Chromosome 15q11-q13 contains imprinted genes necessary for normal mammalian neurodevelopment controlled by a differentially methylated imprinting center (PWS-IC). Maternal duplications of 15q11-q13 (dup15q) occur as both interstitial duplications (int dup(15)) and isodicentric chromosome 15 (idic15). Over-expression of the maternally expressed gene UBE3A is predicted to be the primary cause of the autistic features associated with dup15q. Previous analysis of two post-mortem dup15q frontal cortical samples showed heterogeneity between the two cases, with one showing levels of GABAA receptor genes, UBE3A, and SNRPN in a manner not predicted by copy number or parental imprint.METHODS:Postmortem human brain tissue (BA19, extrastriate visual cortex) was obtained from 8 dup15q, 10 idiopathic autism and 21 typical control samples. Quantitative PCR was used to confirm duplication status. Quantitative reverse transcriptase PCR and Western blot analyses were performed to measure 15q11-q13 transcript and protein levels, respectively. Methylation-sensitive high resolution melt curve analysis was performed on brain genomic DNA to identify the maternal:paternal ratio of methylation at PWS-IC.RESULTS:Dup15q brain samples showed a higher level of PWS-IC methylation than control or autism samples, indicating that the duplication of 15q was maternal in origin. UBE3A transcript and protein levels were significantly higher in dup15q than control and autism, as expected, although levels were variable and lower than expected based on copy number in some samples. In contrast, this increase in copy number did not result in consistently increased GABRB3 transcript or protein levels for dup15q samples. Furthermore, SNRPN was expected to be unchanged in expression in dup15q because it is expressed from the single unmethylated paternal allele, yet SNRPN levels were significantly reduced in dup15q samples compared to controls. PWS-IC methylation positively correlated with UBE3A and GABRB3, but negatively correlated with SNRPN levels. Idiopathic autism samples exhibited significantly lower GABRB3 and significantly more variable SNRPN levels compared to controls.CONCLUSIONS:While these results show that increased UBE3A/UBE3A is a consistent feature of dup15q syndrome, they also suggest that gene expression within 15q11-q13 is not based entirely on copy number but can be influenced by epigenetic mechanisms in brain. En ligne : http://dx.doi.org/10.1186/2040-2392-2-19 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149 [article] Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples [texte imprimé] / Haley SCOLES, Auteur ; Nora URRACA, Auteur ; Samuel CHADWICK, Auteur ; Lawrence T. REITER, Auteur ; Janine M. LASALLE, Auteur . - 2011 . - 41 p. Langues : Anglais (eng) in Molecular Autism > (December 2011) . - 41 p. Index. décimale : PER Périodiques Résumé : BACKGROUND:Duplications of chromosome 15q11-q13 account for ~3% of autism cases. Chromosome 15q11-q13 contains imprinted genes necessary for normal mammalian neurodevelopment controlled by a differentially methylated imprinting center (PWS-IC). Maternal duplications of 15q11-q13 (dup15q) occur as both interstitial duplications (int dup(15)) and isodicentric chromosome 15 (idic15). Over-expression of the maternally expressed gene UBE3A is predicted to be the primary cause of the autistic features associated with dup15q. Previous analysis of two post-mortem dup15q frontal cortical samples showed heterogeneity between the two cases, with one showing levels of GABAA receptor genes, UBE3A, and SNRPN in a manner not predicted by copy number or parental imprint.METHODS:Postmortem human brain tissue (BA19, extrastriate visual cortex) was obtained from 8 dup15q, 10 idiopathic autism and 21 typical control samples. Quantitative PCR was used to confirm duplication status. Quantitative reverse transcriptase PCR and Western blot analyses were performed to measure 15q11-q13 transcript and protein levels, respectively. Methylation-sensitive high resolution melt curve analysis was performed on brain genomic DNA to identify the maternal:paternal ratio of methylation at PWS-IC.RESULTS:Dup15q brain samples showed a higher level of PWS-IC methylation than control or autism samples, indicating that the duplication of 15q was maternal in origin. UBE3A transcript and protein levels were significantly higher in dup15q than control and autism, as expected, although levels were variable and lower than expected based on copy number in some samples. In contrast, this increase in copy number did not result in consistently increased GABRB3 transcript or protein levels for dup15q samples. Furthermore, SNRPN was expected to be unchanged in expression in dup15q because it is expressed from the single unmethylated paternal allele, yet SNRPN levels were significantly reduced in dup15q samples compared to controls. PWS-IC methylation positively correlated with UBE3A and GABRB3, but negatively correlated with SNRPN levels. Idiopathic autism samples exhibited significantly lower GABRB3 and significantly more variable SNRPN levels compared to controls.CONCLUSIONS:While these results show that increased UBE3A/UBE3A is a consistent feature of dup15q syndrome, they also suggest that gene expression within 15q11-q13 is not based entirely on copy number but can be influenced by epigenetic mechanisms in brain. En ligne : http://dx.doi.org/10.1186/2040-2392-2-19 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149

Mechanisms underlying the EEG biomarker in Dup15q syndrome / Joel FROHLICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 29 p. Titre : Mechanisms underlying the EEG biomarker in Dup15q syndrome Type de document : texte imprimé Auteurs : Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : 29 p. Langues : Anglais (eng) Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Gabra5  Gabrb3  Gabrg3  Neurodevelopmental disorders  UBE3A Index. décimale : PER Périodiques Résumé : Background: Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopmental disorders such as autism spectrum disorder (ASD). To guide targeted treatments of Dup15q syndrome and other forms of ASD, biomarkers are needed that reflect molecular mechanisms of pathology. We recently described a beta EEG phenotype of Dup15q syndrome, but it remains unknown which specific genes drive this phenotype. Methods: To test the hypothesis that UBE3A overexpression is not necessary for the beta EEG phenotype, we compared EEG from a reference cohort of children with Dup15q syndrome (n = 27) to (1) the pharmacological effects of the GABAA modulator midazolam (n = 12) on EEG from healthy adults, (2) EEG from typically developing (TD) children (n = 14), and (3) EEG from two children with duplications of paternal 15q (i.e., the UBE3A-silenced allele). Results: Peak beta power was significantly increased in the reference cohort relative to TD controls. Midazolam administration recapitulated the beta EEG phenotype in healthy adults with a similar peak frequency in central channels (f = 23.0 Hz) as Dup15q syndrome (f = 23.1 Hz). Both paternal Dup15q syndrome cases displayed beta power comparable to the reference cohort. Conclusions: Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by UBE3A dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome. En ligne : https://dx.doi.org/10.1186/s13229-019-0280-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Mechanisms underlying the EEG biomarker in Dup15q syndrome [texte imprimé] / Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur . - 29 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 29 p. Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Gabra5  Gabrb3  Gabrg3  Neurodevelopmental disorders  UBE3A Index. décimale : PER Périodiques Résumé : Background: Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopmental disorders such as autism spectrum disorder (ASD). To guide targeted treatments of Dup15q syndrome and other forms of ASD, biomarkers are needed that reflect molecular mechanisms of pathology. We recently described a beta EEG phenotype of Dup15q syndrome, but it remains unknown which specific genes drive this phenotype. Methods: To test the hypothesis that UBE3A overexpression is not necessary for the beta EEG phenotype, we compared EEG from a reference cohort of children with Dup15q syndrome (n = 27) to (1) the pharmacological effects of the GABAA modulator midazolam (n = 12) on EEG from healthy adults, (2) EEG from typically developing (TD) children (n = 14), and (3) EEG from two children with duplications of paternal 15q (i.e., the UBE3A-silenced allele). Results: Peak beta power was significantly increased in the reference cohort relative to TD controls. Midazolam administration recapitulated the beta EEG phenotype in healthy adults with a similar peak frequency in central channels (f = 23.0 Hz) as Dup15q syndrome (f = 23.1 Hz). Both paternal Dup15q syndrome cases displayed beta power comparable to the reference cohort. Conclusions: Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by UBE3A dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome. En ligne : https://dx.doi.org/10.1186/s13229-019-0280-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Properties of beta oscillations in Dup15q syndrome / Vidya SARAVANAPANDIAN in Journal of Neurodevelopmental Disorders, 12 (2020)  

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Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons / Nora URRACA in Molecular Autism, 9 (2018)  

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The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature / Nora URRACA in Autism Research, 6-4 (August 2013)  

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