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Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder / C. L. YIN in Molecular Autism, 7 (2016)
[article]
Titre : Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : C. L. YIN, Auteur ; H. I. CHEN, Auteur ; L. H. LI, Auteur ; Yi-Ling CHIEN, Auteur ; H. M. LIAO, Auteur ; Miao-Churn CHOU, Auteur ; W. J. CHOU, Auteur ; W. C. TSAI, Auteur ; Yen-Nan CHIU, Auteur ; Y. Y. WU, Auteur ; C. Z. LO, Auteur ; J. Y. WU, Auteur ; Y. T. CHEN, Auteur ; S. S. GAU, Auteur Article en page(s) : 23p. Langues : Anglais (eng) Mots-clés : Adolescent Asian Continental Ancestry Group/genetics Autism Spectrum Disorder/etiology/genetics Child China Cohort Studies DNA Copy Number Variations Down-Regulation Exons Female Genome-Wide Association Study Genotype Humans Male Odds Ratio Pedigree Phenotype Polymorphism, Single Nucleotide Ubiquitin-Protein Ligases/genetics Autism spectrum disorder (ASD) Copy number variations (CNVs) Family study Gene expression Park2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. METHODS: To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). RESULTS: A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2-4 of the PARK2 gene. CONCLUSIONS: Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. TRIAL REGISTRATION: ClinicalTrials.gov NCT00494754. En ligne : http://dx.doi.org/10.1186/s13229-016-0087-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329
in Molecular Autism > 7 (2016) . - 23p.[article] Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder [Texte imprimé et/ou numérique] / C. L. YIN, Auteur ; H. I. CHEN, Auteur ; L. H. LI, Auteur ; Yi-Ling CHIEN, Auteur ; H. M. LIAO, Auteur ; Miao-Churn CHOU, Auteur ; W. J. CHOU, Auteur ; W. C. TSAI, Auteur ; Yen-Nan CHIU, Auteur ; Y. Y. WU, Auteur ; C. Z. LO, Auteur ; J. Y. WU, Auteur ; Y. T. CHEN, Auteur ; S. S. GAU, Auteur . - 23p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 23p.
Mots-clés : Adolescent Asian Continental Ancestry Group/genetics Autism Spectrum Disorder/etiology/genetics Child China Cohort Studies DNA Copy Number Variations Down-Regulation Exons Female Genome-Wide Association Study Genotype Humans Male Odds Ratio Pedigree Phenotype Polymorphism, Single Nucleotide Ubiquitin-Protein Ligases/genetics Autism spectrum disorder (ASD) Copy number variations (CNVs) Family study Gene expression Park2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. METHODS: To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). RESULTS: A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2-4 of the PARK2 gene. CONCLUSIONS: Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. TRIAL REGISTRATION: ClinicalTrials.gov NCT00494754. En ligne : http://dx.doi.org/10.1186/s13229-016-0087-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center / Xiaoli DU in Journal of Autism and Developmental Disorders, 52-11 (November 2022)
[article]
Titre : Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center Type de document : Texte imprimé et/ou numérique Auteurs : Xiaoli DU, Auteur ; Jennifer Elaine GLASS, Auteur ; Stephanie BALOW, Auteur ; Lisa M. DYER, Auteur ; Pamela A. RATHBUN, Auteur ; Qiaoning GUAN, Auteur ; Jie LIU, Auteur ; Yaning WU, Auteur ; D. Brian DAWSON, Auteur ; Lauren WALTERS-SEN, Auteur ; Teresa A. SMOLAREK, Auteur ; Wenying ZHANG, Auteur Article en page(s) : p.4828-4842 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis Child DNA Copy Number Variations Female Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/diagnosis/genetics Genetic Testing Hospitals Humans Male Mutation Neurodevelopmental Disorders/diagnosis/genetics Retrospective Studies Trinucleotide Repeat Expansion Autism spectrum disorder (ASD) Copy number variant (CNV) Fragile X Mecp2 Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for MECP2, two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%. En ligne : http://dx.doi.org/10.1007/s10803-021-05337-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489
in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4828-4842[article] Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center [Texte imprimé et/ou numérique] / Xiaoli DU, Auteur ; Jennifer Elaine GLASS, Auteur ; Stephanie BALOW, Auteur ; Lisa M. DYER, Auteur ; Pamela A. RATHBUN, Auteur ; Qiaoning GUAN, Auteur ; Jie LIU, Auteur ; Yaning WU, Auteur ; D. Brian DAWSON, Auteur ; Lauren WALTERS-SEN, Auteur ; Teresa A. SMOLAREK, Auteur ; Wenying ZHANG, Auteur . - p.4828-4842.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4828-4842
Mots-clés : Autism Spectrum Disorder/diagnosis Child DNA Copy Number Variations Female Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/diagnosis/genetics Genetic Testing Hospitals Humans Male Mutation Neurodevelopmental Disorders/diagnosis/genetics Retrospective Studies Trinucleotide Repeat Expansion Autism spectrum disorder (ASD) Copy number variant (CNV) Fragile X Mecp2 Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for MECP2, two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%. En ligne : http://dx.doi.org/10.1007/s10803-021-05337-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude / J. J. LEBLANC in Molecular Autism, 7 (2016)
[article]
Titre : Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude Type de document : Texte imprimé et/ou numérique Auteurs : J. J. LEBLANC, Auteur ; C. A. NELSON, Auteur Article en page(s) : 30p. Langues : Anglais (eng) Mots-clés : Adolescent Child Child, Preschool Chromosomes, Human, Pair 16/genetics DNA Copy Number Variations Developmental Disabilities/diagnosis/physiopathology Electroencephalography Evoked Potentials, Visual/physiology Female Gene Deletion Gene Duplication Humans Male Visual Cortex/diagnostic imaging 16p11.2 copy number variation Visual cortex Visual evoked potential Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. METHODS: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60') that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net. RESULTS: Quantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference. CONCLUSIONS: The results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder. En ligne : http://dx.doi.org/10.1186/s13229-016-0095-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 30p.[article] Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude [Texte imprimé et/ou numérique] / J. J. LEBLANC, Auteur ; C. A. NELSON, Auteur . - 30p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 30p.
Mots-clés : Adolescent Child Child, Preschool Chromosomes, Human, Pair 16/genetics DNA Copy Number Variations Developmental Disabilities/diagnosis/physiopathology Electroencephalography Evoked Potentials, Visual/physiology Female Gene Deletion Gene Duplication Humans Male Visual Cortex/diagnostic imaging 16p11.2 copy number variation Visual cortex Visual evoked potential Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. METHODS: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60') that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net. RESULTS: Quantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference. CONCLUSIONS: The results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder. En ligne : http://dx.doi.org/10.1186/s13229-016-0095-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder / J. PIJUAN in Autism Research, 14-6 (June 2021)
[article]
Titre : PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : J. PIJUAN, Auteur ; J. D. ORTIGOZA-ESCOBAR, Auteur ; J. ORTIZ, Auteur ; A. ALCALÁ, Auteur ; M. J. CALVO, Auteur ; M. CUBELLS, Auteur ; C. HERNANDO-DAVALILLO, Auteur ; F. PALAU, Auteur ; J. HOENICKA, Auteur Article en page(s) : p.1088-1100 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics Autism Spectrum Disorder/genetics DNA Copy Number Variations Exome Genetic Predisposition to Disease/genetics Humans Nerve Tissue Proteins/genetics Receptors, Cell Surface Lrrc40 Plxna2 autism spectrum disorder diagnosis neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disability with high heritability yet the genetic etiology remains elusive. Therefore, it is necessary to elucidate new genotype-phenotype relationships for ASD to improve both the etiological knowledge and diagnosis. In this work, a copy-number variant and whole-exome sequencing analysis were performed in an ASD patient with a complex neurobehavioral phenotype with epilepsy and attention deficit hyperactivity disorder. We identified rare recessive single nucleotide variants in the two genes, PLXNA2 encoding Plexin A2 that participates in neurodevelopment, and LRRC40, which encodes Leucine-rich repeat containing protein 40, a protein of unknown function. PLXNA2 showed the heterozygous missense variants c.614G>A (p.Arg205Gln) and c.4904G>A (p.Arg1635Gln) while LRRC40 presented the homozygous missense variant c.1461G>T (p.Leu487Phe). In silico analysis predicted that these variants could be pathogenic. We studied PLXNA2 and LRRC40 mRNA and proteins in fibroblasts from the patient and controls. We observed a significant PlxnA2 subcellular delocalization and very low levels of LRRC40 in the patient. Moreover, we found a novel interaction between PlxnA2 and LRRC40 suggesting that participate in a common neural pathway. This interaction was significant decreased in the patient's fibroblasts. In conclusion, our results identified PLXNA2 and LRRC40 genes as candidates in ASD providing novel clues for the pathogenesis. Further attention to these genes is warranted in genetic studies of patients with neurodevelopmental disorders, particularly ASD. LAY SUMMARY: Genomics is improving the knowledge and diagnosis of patients with autism spectrum disorder (ASD) yet the genetic etiology remains elusive. Here, using genomic analysis together with experimental functional studies, we identified in an ASD complex patient the PLXNA2 and LRRC40 recessive genes as ASD candidates. Furthermore, we found that the proteins of these genes interact in a common neural network. Therefore, more attention to these genes is warranted in genetic studies of patients with neurodevelopmental disorders, particularly ASD. En ligne : http://dx.doi.org/10.1002/aur.2502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449
in Autism Research > 14-6 (June 2021) . - p.1088-1100[article] PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder [Texte imprimé et/ou numérique] / J. PIJUAN, Auteur ; J. D. ORTIGOZA-ESCOBAR, Auteur ; J. ORTIZ, Auteur ; A. ALCALÁ, Auteur ; M. J. CALVO, Auteur ; M. CUBELLS, Auteur ; C. HERNANDO-DAVALILLO, Auteur ; F. PALAU, Auteur ; J. HOENICKA, Auteur . - p.1088-1100.
Langues : Anglais (eng)
in Autism Research > 14-6 (June 2021) . - p.1088-1100
Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics Autism Spectrum Disorder/genetics DNA Copy Number Variations Exome Genetic Predisposition to Disease/genetics Humans Nerve Tissue Proteins/genetics Receptors, Cell Surface Lrrc40 Plxna2 autism spectrum disorder diagnosis neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disability with high heritability yet the genetic etiology remains elusive. Therefore, it is necessary to elucidate new genotype-phenotype relationships for ASD to improve both the etiological knowledge and diagnosis. In this work, a copy-number variant and whole-exome sequencing analysis were performed in an ASD patient with a complex neurobehavioral phenotype with epilepsy and attention deficit hyperactivity disorder. We identified rare recessive single nucleotide variants in the two genes, PLXNA2 encoding Plexin A2 that participates in neurodevelopment, and LRRC40, which encodes Leucine-rich repeat containing protein 40, a protein of unknown function. PLXNA2 showed the heterozygous missense variants c.614G>A (p.Arg205Gln) and c.4904G>A (p.Arg1635Gln) while LRRC40 presented the homozygous missense variant c.1461G>T (p.Leu487Phe). In silico analysis predicted that these variants could be pathogenic. We studied PLXNA2 and LRRC40 mRNA and proteins in fibroblasts from the patient and controls. We observed a significant PlxnA2 subcellular delocalization and very low levels of LRRC40 in the patient. Moreover, we found a novel interaction between PlxnA2 and LRRC40 suggesting that participate in a common neural pathway. This interaction was significant decreased in the patient's fibroblasts. In conclusion, our results identified PLXNA2 and LRRC40 genes as candidates in ASD providing novel clues for the pathogenesis. Further attention to these genes is warranted in genetic studies of patients with neurodevelopmental disorders, particularly ASD. LAY SUMMARY: Genomics is improving the knowledge and diagnosis of patients with autism spectrum disorder (ASD) yet the genetic etiology remains elusive. Here, using genomic analysis together with experimental functional studies, we identified in an ASD complex patient the PLXNA2 and LRRC40 recessive genes as ASD candidates. Furthermore, we found that the proteins of these genes interact in a common neural network. Therefore, more attention to these genes is warranted in genetic studies of patients with neurodevelopmental disorders, particularly ASD. En ligne : http://dx.doi.org/10.1002/aur.2502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings / K. OHASHI in Journal of Autism and Developmental Disorders, 51-12 (December 2021)
[article]
Titre : Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings Type de document : Texte imprimé et/ou numérique Auteurs : K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur Article en page(s) : p.4655-4662 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662[article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings [Texte imprimé et/ou numérique] / K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur . - p.4655-4662.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454