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Copy number variation and neural pathway analysis of children with autism spectrum disorder from a large Han Chinese population-based cross-sectional study / You YANG in Research in Autism Spectrum Disorders, 51 (July 2018)
[article]
Titre : Copy number variation and neural pathway analysis of children with autism spectrum disorder from a large Han Chinese population-based cross-sectional study Type de document : Texte imprimé et/ou numérique Auteurs : You YANG, Auteur ; Zhijuan JIN, Auteur ; Jian WANG, Auteur ; Shijian LIU, Auteur ; Hong HUANG, Auteur ; Xingming JIN, Auteur Article en page(s) : p.66-74 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD) Copy number variations (CNVs) Microarray diagnostic testing Pathway analysis Han Chinese Index. décimale : PER Périodiques Résumé : Certain genetic events can be attributed to copy number variations (CNVs). A population in Shanghai, China was screened for autism spectrum disorder (ASD), and their CNV characteristics and possible associations with neural pathways were analyzed. A multi-stage stratified cluster sampling method was used to evaluate 3- to 12-year-old children from the general population who were in kindergarten and primary school in Shanghai. DNA samples were obtained from 133 ASD cases from preparatory ASD screening. An Affymetrix Cytoscan 750k array was used for copy number variant detection. Among the 711 children who had positive results on a survey completed by both their parents and teachers, a total of 663 (93.2%) children underwent diagnostic evaluation. Of these, 203 children were confirmed to have ASD, including 163 (80.3%) children from special education schools, 29 (14.3%) children from general kindergartens, and 11 (5.4%) children from general primary schools. Final consent had been given for blood collection, and 15 CNVs that may contribute to ASD in 133 cases were identified. The mean ages at which the ASD children with and without pathogenic CNVs (pCNVs) began to speak were 45.6 months and 29.2 months, respectively (t?=?2.452, P?=?0.016), and the ages of walking alone were 33.9 months and 17.5 months, respectively (t?=?5.376, P?0.001). ASD patients with pCNVs showed more abnormal facial features and signs of ASD (long faces, large noses, irregular teeth, dental caries, excessive joint extension) than those without pCNVs. The differences in tooth irregularity and dental caries between children with and without pCNVs were statistically significant (P?0.01). These CNVs included a total of 993 genes. Pathway analysis was performed, and five statistically significant pathways were identified in online databases. This was the first population-based, pilot pathway analysis of CNVs in children with ASD under the diagnostic and statistical manual of mental disorders (DSM)-5 diagnostic criteria in China. Results indicate that ASD may be related to gamma-aminobutyric acid (GABA),dopamine, glycine and synaptic proteins. These findings are consistent with those of previous studies and provide new evidence for the role of regulation of proteolysis and endopeptidase activity in ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.04.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=362
in Research in Autism Spectrum Disorders > 51 (July 2018) . - p.66-74[article] Copy number variation and neural pathway analysis of children with autism spectrum disorder from a large Han Chinese population-based cross-sectional study [Texte imprimé et/ou numérique] / You YANG, Auteur ; Zhijuan JIN, Auteur ; Jian WANG, Auteur ; Shijian LIU, Auteur ; Hong HUANG, Auteur ; Xingming JIN, Auteur . - p.66-74.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 51 (July 2018) . - p.66-74
Mots-clés : Autism spectrum disorder (ASD) Copy number variations (CNVs) Microarray diagnostic testing Pathway analysis Han Chinese Index. décimale : PER Périodiques Résumé : Certain genetic events can be attributed to copy number variations (CNVs). A population in Shanghai, China was screened for autism spectrum disorder (ASD), and their CNV characteristics and possible associations with neural pathways were analyzed. A multi-stage stratified cluster sampling method was used to evaluate 3- to 12-year-old children from the general population who were in kindergarten and primary school in Shanghai. DNA samples were obtained from 133 ASD cases from preparatory ASD screening. An Affymetrix Cytoscan 750k array was used for copy number variant detection. Among the 711 children who had positive results on a survey completed by both their parents and teachers, a total of 663 (93.2%) children underwent diagnostic evaluation. Of these, 203 children were confirmed to have ASD, including 163 (80.3%) children from special education schools, 29 (14.3%) children from general kindergartens, and 11 (5.4%) children from general primary schools. Final consent had been given for blood collection, and 15 CNVs that may contribute to ASD in 133 cases were identified. The mean ages at which the ASD children with and without pathogenic CNVs (pCNVs) began to speak were 45.6 months and 29.2 months, respectively (t?=?2.452, P?=?0.016), and the ages of walking alone were 33.9 months and 17.5 months, respectively (t?=?5.376, P?0.001). ASD patients with pCNVs showed more abnormal facial features and signs of ASD (long faces, large noses, irregular teeth, dental caries, excessive joint extension) than those without pCNVs. The differences in tooth irregularity and dental caries between children with and without pCNVs were statistically significant (P?0.01). These CNVs included a total of 993 genes. Pathway analysis was performed, and five statistically significant pathways were identified in online databases. This was the first population-based, pilot pathway analysis of CNVs in children with ASD under the diagnostic and statistical manual of mental disorders (DSM)-5 diagnostic criteria in China. Results indicate that ASD may be related to gamma-aminobutyric acid (GABA),dopamine, glycine and synaptic proteins. These findings are consistent with those of previous studies and provide new evidence for the role of regulation of proteolysis and endopeptidase activity in ASD. En ligne : https://doi.org/10.1016/j.rasd.2018.04.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=362 Copy number variation in Han Chinese individuals with autism spectrum disorder / M. J. GAZZELLONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Copy number variation in Han Chinese individuals with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : M. J. GAZZELLONE, Auteur ; X. ZHOU, Auteur ; A. C. LIONEL, Auteur ; M. UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; C. SUN, Auteur ; J. WANG, Auteur ; M. ZOU, Auteur ; K. TAMMIMIES, Auteur ; S. WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; J. WEI, Auteur ; Z. WANG, Auteur ; L. WU, Auteur ; Stephen SCHERER, Auteur Article en page(s) : p.34 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD) Copy number variations (CNVs) Han Chinese Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34[article] Copy number variation in Han Chinese individuals with autism spectrum disorder [Texte imprimé et/ou numérique] / M. J. GAZZELLONE, Auteur ; X. ZHOU, Auteur ; A. C. LIONEL, Auteur ; M. UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; C. SUN, Auteur ; J. WANG, Auteur ; M. ZOU, Auteur ; K. TAMMIMIES, Auteur ; S. WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; J. WEI, Auteur ; Z. WANG, Auteur ; L. WU, Auteur ; Stephen SCHERER, Auteur . - p.34.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34
Mots-clés : Autism spectrum disorder (ASD) Copy number variations (CNVs) Han Chinese Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346