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Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder / Ashok PATOWARY in Autism Research, 10-8 (August 2017)
[article]
Titre : Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ashok PATOWARY, Auteur ; Ryan NESBITT, Auteur ; Marilyn ARCHER, Auteur ; Raphael BERNIER, Auteur ; Zoran BRKANAC, Auteur Article en page(s) : p.1338-1343 Langues : Anglais (eng) Mots-clés : mitochondria autism spectrum disorder whole exome sequencing single nucleotide variation next generation sequencing Index. décimale : PER Périodiques Résumé : Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families. In one of the families we have identified two variants of interest in MT-ND5 gene that were previously determined to impair mitochondrial function. In addition in a second family we have identified two VOIs; mtDNA variant in MT-ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex. Our findings provide further support for the role of mitochondria in ASD and confirm that whole-exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism. En ligne : http://dx.doi.org/10.1002/aur.1792 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310
in Autism Research > 10-8 (August 2017) . - p.1338-1343[article] Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Ashok PATOWARY, Auteur ; Ryan NESBITT, Auteur ; Marilyn ARCHER, Auteur ; Raphael BERNIER, Auteur ; Zoran BRKANAC, Auteur . - p.1338-1343.
Langues : Anglais (eng)
in Autism Research > 10-8 (August 2017) . - p.1338-1343
Mots-clés : mitochondria autism spectrum disorder whole exome sequencing single nucleotide variation next generation sequencing Index. décimale : PER Périodiques Résumé : Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families. In one of the families we have identified two variants of interest in MT-ND5 gene that were previously determined to impair mitochondrial function. In addition in a second family we have identified two VOIs; mtDNA variant in MT-ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex. Our findings provide further support for the role of mitochondria in ASD and confirm that whole-exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism. En ligne : http://dx.doi.org/10.1002/aur.1792 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310 Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? / Caroline DEMILY in Journal of Autism and Developmental Disorders, 48-8 (August 2018)
[article]
Titre : Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? Type de document : Texte imprimé et/ou numérique Auteurs : Caroline DEMILY, Auteur ; G. LESCA, Auteur ; A. POISSON, Auteur ; M. TILL, Auteur ; Giulia BARCIA, Auteur ; N. CHATRON, Auteur ; Damien SANLAVILLE, Auteur ; A. MUNNICH, Auteur Article en page(s) : p.2886-2889 Langues : Anglais (eng) Mots-clés : 22q11.2 duplication Autism spectrum disorders Epilepsy Genetic counseling Incomplete penetrance Next generation sequencing Index. décimale : PER Périodiques Résumé : The 22q11.2 duplication is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic HUWE1 and KIF1A mutations in two severely affected ASD/ID participants carrying a 22q11.2 duplication. Based on previous studies, this CNV was originally considered as disease-causing. Yet, owing to their clinical severity, the participants were further investigated by next generation sequencing and eventually found to carry pathogenic mutations in HUWE1 and KIF1A respectively. We suggest giving consideration to additive effect of 22q11.2 duplication and pathogenic mutations when clinical presentation is either unusually severe or associated with atypical features. Caution should be exercised when delivering genetic counseling for variably penetrant CNVs, as uncertain penetrance of this CNV may lead to ignore additive pathogenic mutations. Systematic panel or exome sequencing of known ASD genes should be recommended when counseling families of patients carrying variably penetrant CNV. En ligne : http://dx.doi.org/10.1007/s10803-018-3552-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367
in Journal of Autism and Developmental Disorders > 48-8 (August 2018) . - p.2886-2889[article] Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? [Texte imprimé et/ou numérique] / Caroline DEMILY, Auteur ; G. LESCA, Auteur ; A. POISSON, Auteur ; M. TILL, Auteur ; Giulia BARCIA, Auteur ; N. CHATRON, Auteur ; Damien SANLAVILLE, Auteur ; A. MUNNICH, Auteur . - p.2886-2889.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-8 (August 2018) . - p.2886-2889
Mots-clés : 22q11.2 duplication Autism spectrum disorders Epilepsy Genetic counseling Incomplete penetrance Next generation sequencing Index. décimale : PER Périodiques Résumé : The 22q11.2 duplication is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic HUWE1 and KIF1A mutations in two severely affected ASD/ID participants carrying a 22q11.2 duplication. Based on previous studies, this CNV was originally considered as disease-causing. Yet, owing to their clinical severity, the participants were further investigated by next generation sequencing and eventually found to carry pathogenic mutations in HUWE1 and KIF1A respectively. We suggest giving consideration to additive effect of 22q11.2 duplication and pathogenic mutations when clinical presentation is either unusually severe or associated with atypical features. Caution should be exercised when delivering genetic counseling for variably penetrant CNVs, as uncertain penetrance of this CNV may lead to ignore additive pathogenic mutations. Systematic panel or exome sequencing of known ASD genes should be recommended when counseling families of patients carrying variably penetrant CNV. En ligne : http://dx.doi.org/10.1007/s10803-018-3552-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367