Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder / Ashok PATOWARY in Autism Research, 10-8 (August 2017)  

Public ISBD [article]  inAutism Research > 10-8 (August 2017) . - p.1338-1343 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 [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

Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample / B. PETER in Journal of Neurodevelopmental Disorders, 3-1 (March 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.39-49 Titre : Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample Type de document : Texte imprimé et/ou numérique Auteurs : B. PETER, Auteur ; W. H. RASKIND, Auteur ; M. MATSUSHITA, Auteur ; M. LISOWSKI, Auteur ; T. VU, Auteur ; Virginia W. BERNINGER, Auteur ; E. M. WIJSMAN, Auteur ; Zoran BRKANAC, Auteur Article en page(s) : p.39-49 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Two functionally related genes, FOXP2 and CNTNAP2, influence language abilities in families with rare syndromic and common nonsyndromic forms of impaired language, respectively. We investigated whether these genes are associated with component phenotypes of dyslexia and measures of sequential motor ability. Quantitative transmission disequilibrium testing (QTDT) and linear association modeling were used to evaluate associations with measures of phonological memory (nonword repetition, NWR), expressive language (sentence repetition), reading (real word reading efficiency, RWRE; word attack, WATT), and timed sequential motor activities (rapid alternating place of articulation, RAPA; finger succession in the dominant hand, FS-D) in 188 family trios with a child with dyslexia. Consistent with a prior study of language impairment, QTDT in dyslexia showed evidence of CNTNAP2 single nucleotide polymorphism (SNP) association with NWR. For FOXP2, we provide the first evidence for SNP association with component phenotypes of dyslexia, specifically NWR and RWRE but not WATT. In addition, FOXP2 SNP associations with both RAPA and FS-D were observed. Our results confirm the role of CNTNAP2 in NWR in a dyslexia sample and motivate new questions about the effects of FOXP2 in neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1007/s11689-010-9065-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample [Texte imprimé et/ou numérique] / B. PETER, Auteur ; W. H. RASKIND, Auteur ; M. MATSUSHITA, Auteur ; M. LISOWSKI, Auteur ; T. VU, Auteur ; Virginia W. BERNINGER, Auteur ; E. M. WIJSMAN, Auteur ; Zoran BRKANAC, Auteur . - p.39-49. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.39-49 Index. décimale : PER Périodiques Résumé : Two functionally related genes, FOXP2 and CNTNAP2, influence language abilities in families with rare syndromic and common nonsyndromic forms of impaired language, respectively. We investigated whether these genes are associated with component phenotypes of dyslexia and measures of sequential motor ability. Quantitative transmission disequilibrium testing (QTDT) and linear association modeling were used to evaluate associations with measures of phonological memory (nonword repetition, NWR), expressive language (sentence repetition), reading (real word reading efficiency, RWRE; word attack, WATT), and timed sequential motor activities (rapid alternating place of articulation, RAPA; finger succession in the dominant hand, FS-D) in 188 family trios with a child with dyslexia. Consistent with a prior study of language impairment, QTDT in dyslexia showed evidence of CNTNAP2 single nucleotide polymorphism (SNP) association with NWR. For FOXP2, we provide the first evidence for SNP association with component phenotypes of dyslexia, specifically NWR and RWRE but not WATT. In addition, FOXP2 SNP associations with both RAPA and FS-D were observed. Our results confirm the role of CNTNAP2 in NWR in a dyslexia sample and motivate new questions about the effects of FOXP2 in neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1007/s11689-010-9065-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

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