4 recherche sur le mot-clé 'chromosomes'

Age of diagnosis for children with chromosome 15q syndromes / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Age of diagnosis for children with chromosome 15q syndromes Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Age of diagnosis for children with chromosome 15q syndromes [texte imprimé] / Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Infantile Autism and Associated Autosomal Chromosome Abnormalities: A Register-based Study and a Literature Survey / Marlene B. LAURITSEN in Journal of Child Psychology and Psychiatry, 40-3 (March 1999)

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 40-3 (March 1999) . - p.335-345 Titre : Infantile Autism and Associated Autosomal Chromosome Abnormalities: A Register-based Study and a Literature Survey Type de document : texte imprimé Auteurs : Marlene B. LAURITSEN, Auteur ; Ole MORS, Auteur ; Preben Bo MORTENSEN, Auteur ; H. EWALD, Auteur Année de publication : 1999 Article en page(s) : p.335-345 Langues : Anglais (eng) Mots-clés : Autism  chromosomes  genetics Index. décimale : PER Périodiques Résumé : Infantile autism is a heterogenous disorder with unknown aetiology. Evidence from the relatively few family and twin studies suggests a genetic component. Co-occurrence or cosegregation between infantile autism and chromosomal abnormalities may identify candidate regions, which could be tested in linkage or association studies. The purpose of this study was to use the Danish Cytogenetic Central Register in order to detect autosomal chromosome abnormalities associated with infantile autism, and to review the literature for cases of autism associated with autosomal chromosome abnormalities to identify candidate chromosomal regions. The register-based study identified possible candidate regions on chromosome 7q21 and 10q21.2, which have not previously been reported. A few interesting candidate regions, 15q11–13, 16q23, and 17p11.2 were found in the literature survey. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=124 [article] Infantile Autism and Associated Autosomal Chromosome Abnormalities: A Register-based Study and a Literature Survey [texte imprimé] / Marlene B. LAURITSEN, Auteur ; Ole MORS, Auteur ; Preben Bo MORTENSEN, Auteur ; H. EWALD, Auteur . - 1999 . - p.335-345. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 40-3 (March 1999) . - p.335-345 Mots-clés : Autism  chromosomes  genetics Index. décimale : PER Périodiques Résumé : Infantile autism is a heterogenous disorder with unknown aetiology. Evidence from the relatively few family and twin studies suggests a genetic component. Co-occurrence or cosegregation between infantile autism and chromosomal abnormalities may identify candidate regions, which could be tested in linkage or association studies. The purpose of this study was to use the Danish Cytogenetic Central Register in order to detect autosomal chromosome abnormalities associated with infantile autism, and to review the literature for cases of autism associated with autosomal chromosome abnormalities to identify candidate chromosomal regions. The register-based study identified possible candidate regions on chromosome 7q21 and 10q21.2, which have not previously been reported. A few interesting candidate regions, 15q11–13, 16q23, and 17p11.2 were found in the literature survey. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=124

Psychotic symptoms in 16p11.2 copy-number variant carriers / Amandeep JUTLA in Autism Research, 13-2 (February 2020)  

Public ISBD [article]  inAutism Research > 13-2 (February 2020) . - p.187-198 Titre : Psychotic symptoms in 16p11.2 copy-number variant carriers Type de document : texte imprimé Auteurs : Amandeep JUTLA, Auteur ; J. Blake TURNER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.187-198 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  chromosome deletion  chromosome duplication  chromosomes  human  obsessive-compulsive disorder  pair 16  phenotype  schizophrenia spectrum and other psychotic disorders Index. décimale : PER Périodiques Résumé : 16p11.2 copy-number variation (CNV) is implicated in neurodevelopmental disorders, with the duplication and deletion associated with autism spectrum disorder (ASD) and the duplication associated with schizophrenia (SCZ). The 16p11.2 CNV may therefore provide insight into the relationship between ASD and SCZ, distinct disorders that co-occur at an elevated rate, and are difficult to distinguish from each other and from common co-occurring diagnoses such as obsessive compulsive disorder (OCD), itself a potential risk factor for SCZ. As psychotic symptoms are core to SCZ but distinct from ASD, we sought to examine their predictors in a population (n = 546) of 16p11.2 CNV carriers and their noncarrier siblings recruited by the Simons Variation in Individuals Project. We hypothesized that psychotic symptoms would be most common in duplication carriers followed by deletion carriers and noncarriers, that an ASD diagnosis would predict psychotic symptoms among CNV carriers, and that OCD symptoms would predict psychotic symptoms among all participants. Using data collected across multiple measures, we identified 19 participants with psychotic symptoms. Logistic regression models adjusting for biological sex, age, and IQ found that 16p11.2 duplication and ASD diagnosis predicted psychotic symptom presence. Our findings suggest that the association between 16p11.2 duplication and psychotic symptoms is independent of ASD diagnosis and that ASD diagnosis and psychotic symptoms may be associated in 16p11.2 CNV carriers. Autism Res 2020, 13: 187-198. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Either deletion or duplication at chromosome 16p11.2 raises the risk of autism spectrum disorder, and duplication, but not deletion, has been reported in schizophrenia (SCZ). In a sample of 16p11.2 deletion and duplication carriers, we found that having the duplication or having an autism diagnosis may increase the risk of psychosis, a key feature of SCZ. En ligne : http://dx.doi.org/10.1002/aur.2232 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420 [article] Psychotic symptoms in 16p11.2 copy-number variant carriers [texte imprimé] / Amandeep JUTLA, Auteur ; J. Blake TURNER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.187-198. Langues : Anglais (eng) in Autism Research > 13-2 (February 2020) . - p.187-198 Mots-clés : autism spectrum disorder  chromosome deletion  chromosome duplication  chromosomes  human  obsessive-compulsive disorder  pair 16  phenotype  schizophrenia spectrum and other psychotic disorders Index. décimale : PER Périodiques Résumé : 16p11.2 copy-number variation (CNV) is implicated in neurodevelopmental disorders, with the duplication and deletion associated with autism spectrum disorder (ASD) and the duplication associated with schizophrenia (SCZ). The 16p11.2 CNV may therefore provide insight into the relationship between ASD and SCZ, distinct disorders that co-occur at an elevated rate, and are difficult to distinguish from each other and from common co-occurring diagnoses such as obsessive compulsive disorder (OCD), itself a potential risk factor for SCZ. As psychotic symptoms are core to SCZ but distinct from ASD, we sought to examine their predictors in a population (n = 546) of 16p11.2 CNV carriers and their noncarrier siblings recruited by the Simons Variation in Individuals Project. We hypothesized that psychotic symptoms would be most common in duplication carriers followed by deletion carriers and noncarriers, that an ASD diagnosis would predict psychotic symptoms among CNV carriers, and that OCD symptoms would predict psychotic symptoms among all participants. Using data collected across multiple measures, we identified 19 participants with psychotic symptoms. Logistic regression models adjusting for biological sex, age, and IQ found that 16p11.2 duplication and ASD diagnosis predicted psychotic symptom presence. Our findings suggest that the association between 16p11.2 duplication and psychotic symptoms is independent of ASD diagnosis and that ASD diagnosis and psychotic symptoms may be associated in 16p11.2 CNV carriers. Autism Res 2020, 13: 187-198. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Either deletion or duplication at chromosome 16p11.2 raises the risk of autism spectrum disorder, and duplication, but not deletion, has been reported in schizophrenia (SCZ). In a sample of 16p11.2 deletion and duplication carriers, we found that having the duplication or having an autism diagnosis may increase the risk of psychosis, a key feature of SCZ. En ligne : http://dx.doi.org/10.1002/aur.2232 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance / Hyeong-Min LEE in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance Type de document : texte imprimé Auteurs : Hyeong-Min LEE, Auteur ; M Bram KUIJER, Auteur ; Nerea RUIZ BLANES, Auteur ; Ellen P. CLARK, Auteur ; Megumi AITA, Auteur ; Lorena GALIANO ARJONA, Auteur ; Agnieszka KOKOT, Auteur ; Noah SCIAKY, Auteur ; Jeremy M. SIMON, Auteur ; Sanchita BHATNAGAR, Auteur ; Benjamin D. PHILPOT, Auteur ; Andrea CERASE, Auteur Langues : Anglais (eng) Mots-clés : Animals  Chromosomes  Female  Male  Methyl-CpG-Binding Protein 2/genetics/metabolism  Mice  Mutation  Rett Syndrome/drug therapy/genetics  X Chromosome Inactivation  Ag490  Jak/stat  Janus Kinase  Janus Kinase inhibitors  MeCP2  PI3K/ATK pathways  Rett syndrome  X-chromosome inactivation Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological defects. Because X-chromosome inactivation (XCI) is a random process, approximately 50% of the cells silence the wild-type (WT) copy of the MeCP2 gene. Thus, reactivating the silent WT copy of MeCP2 could provide therapeutic intervention for RTT. METHODS: Toward this goal, we screened ~ 28,000 small-molecule compounds from several libraries using a MeCP2-luciferase reporter cell line and cortical neurons from a MeCP2-EGFP mouse model. We used gain/increase of luminescence or fluorescence as a readout of MeCP2 reactivation and tested the efficacy of these drugs under different drug regimens, conditions, and cellular contexts. RESULTS: We identified inhibitors of the JAK/STAT pathway as XCI-reactivating agents, both by in vitro and ex vivo assays. In particular, we show that AG-490, a Janus Kinase 2 (JAK2) kinase inhibitor, and Jaki, a pan JAK/STAT inhibitor, are capable of reactivating MeCP2 from the inactive X chromosome, in different cellular contexts. CONCLUSIONS: Our results suggest that inhibition of the JAK/STAT pathway is a new potential pathway to reinstate MeCP2 gene expression as an efficient RTT treatment. En ligne : https://dx.doi.org/10.1186/s11689-020-09332-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance [texte imprimé] / Hyeong-Min LEE, Auteur ; M Bram KUIJER, Auteur ; Nerea RUIZ BLANES, Auteur ; Ellen P. CLARK, Auteur ; Megumi AITA, Auteur ; Lorena GALIANO ARJONA, Auteur ; Agnieszka KOKOT, Auteur ; Noah SCIAKY, Auteur ; Jeremy M. SIMON, Auteur ; Sanchita BHATNAGAR, Auteur ; Benjamin D. PHILPOT, Auteur ; Andrea CERASE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Animals  Chromosomes  Female  Male  Methyl-CpG-Binding Protein 2/genetics/metabolism  Mice  Mutation  Rett Syndrome/drug therapy/genetics  X Chromosome Inactivation  Ag490  Jak/stat  Janus Kinase  Janus Kinase inhibitors  MeCP2  PI3K/ATK pathways  Rett syndrome  X-chromosome inactivation Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological defects. Because X-chromosome inactivation (XCI) is a random process, approximately 50% of the cells silence the wild-type (WT) copy of the MeCP2 gene. Thus, reactivating the silent WT copy of MeCP2 could provide therapeutic intervention for RTT. METHODS: Toward this goal, we screened ~ 28,000 small-molecule compounds from several libraries using a MeCP2-luciferase reporter cell line and cortical neurons from a MeCP2-EGFP mouse model. We used gain/increase of luminescence or fluorescence as a readout of MeCP2 reactivation and tested the efficacy of these drugs under different drug regimens, conditions, and cellular contexts. RESULTS: We identified inhibitors of the JAK/STAT pathway as XCI-reactivating agents, both by in vitro and ex vivo assays. In particular, we show that AG-490, a Janus Kinase 2 (JAK2) kinase inhibitor, and Jaki, a pan JAK/STAT inhibitor, are capable of reactivating MeCP2 from the inactive X chromosome, in different cellular contexts. CONCLUSIONS: Our results suggest that inhibition of the JAK/STAT pathway is a new potential pathway to reinstate MeCP2 gene expression as an efficient RTT treatment. En ligne : https://dx.doi.org/10.1186/s11689-020-09332-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573