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Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability / Yiping SHEN
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Yiping SHEN, Auteur ; Xiaohong GONG, Auteur Année de publication : 2016 Importance : p.3-12 Langues : Anglais (eng) Mots-clés : Autozygosity mapping Balanced translocation breakpoint mapping Candidate gene approach Copy number variations Exome sequencing Linkage analysis Next-generation sequencing Positional mapping Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability [Texte imprimé et/ou numérique] / Yiping SHEN, Auteur ; Xiaohong GONG, Auteur . - 2016 . - p.3-12.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autozygosity mapping Balanced translocation breakpoint mapping Candidate gene approach Copy number variations Exome sequencing Linkage analysis Next-generation sequencing Positional mapping Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures / B. ROYER-BERTRAND in Molecular Autism, 12 (2021)
[article]
Titre : De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures Type de document : Texte imprimé et/ou numérique Auteurs : B. ROYER-BERTRAND, Auteur ; M. JEQUIER GYGAX, Auteur ; K. CISAROVA, Auteur ; J. A. ROSENFELD, Auteur ; J. A. BASSETTI, Auteur ; O. MOLDOVAN, Auteur ; E. O'HEIR, Auteur ; L. C. BURRAGE, Auteur ; J. ALLEN, Auteur ; L. T. EMRICK, Auteur ; E. EASTMAN, Auteur ; C. KUMPS, Auteur ; S. ABBAS, Auteur ; G. VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; E. H. ZACKAI, Auteur ; S. LEBON, Auteur ; B. KEENA, Auteur ; E. J. BHOJ, Auteur ; M. UMAIR, Auteur ; D. LI, Auteur ; K. A. DONALD, Auteur ; A. SUPERTI-FURGA, Auteur Article en page(s) : 69 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Cacna1e Developmental regression Epilepsy Exome sequencing Global developmental delay Intellectual disability Neurodevelopmental disorders Seizures Topiramate receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit ?1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 12 (2021) . - 69 p.[article] De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures [Texte imprimé et/ou numérique] / B. ROYER-BERTRAND, Auteur ; M. JEQUIER GYGAX, Auteur ; K. CISAROVA, Auteur ; J. A. ROSENFELD, Auteur ; J. A. BASSETTI, Auteur ; O. MOLDOVAN, Auteur ; E. O'HEIR, Auteur ; L. C. BURRAGE, Auteur ; J. ALLEN, Auteur ; L. T. EMRICK, Auteur ; E. EASTMAN, Auteur ; C. KUMPS, Auteur ; S. ABBAS, Auteur ; G. VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; E. H. ZACKAI, Auteur ; S. LEBON, Auteur ; B. KEENA, Auteur ; E. J. BHOJ, Auteur ; M. UMAIR, Auteur ; D. LI, Auteur ; K. A. DONALD, Auteur ; A. SUPERTI-FURGA, Auteur . - 69 p.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021) . - 69 p.
Mots-clés : Autism spectrum disorder Cacna1e Developmental regression Epilepsy Exome sequencing Global developmental delay Intellectual disability Neurodevelopmental disorders Seizures Topiramate receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit ?1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459