Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan
<i>Background and Objectives</i>: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNVs) and is recommended for the initial genetic testing of patients with autism spectrum disorder (ASD). This study aims to determine the diagn...
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MDPI AG
2021-12-01
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| Online Access: | https://www.mdpi.com/1648-9144/58/1/15 |
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| author | Chung-Lin Lee Chih-Kuang Chuang Ru-Yi Tu Huei-Ching Chiu Yun-Ting Lo Ya-Hui Chang Yen-Jiun Chen Chao-Ling Chou Peih-Shan Wu Chih-Ping Chen Hsiang-Yu Lin Shuan-Pei Lin |
| author_facet | Chung-Lin Lee Chih-Kuang Chuang Ru-Yi Tu Huei-Ching Chiu Yun-Ting Lo Ya-Hui Chang Yen-Jiun Chen Chao-Ling Chou Peih-Shan Wu Chih-Ping Chen Hsiang-Yu Lin Shuan-Pei Lin |
| author_sort | Chung-Lin Lee |
| collection | DOAJ |
| description | <i>Background and Objectives</i>: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNVs) and is recommended for the initial genetic testing of patients with autism spectrum disorder (ASD). This study aims to determine the diagnostic yield of array comparative genomic hybridization (array-CGH) in ASD patients from a cohort of Chinese patients in Taiwan. <i>Materials and Methods</i>: Enrolled in this study were 80 ASD children (49 males and 31 females; 2–16 years old) followed up at Taipei MacKay Memorial Hospital between January 2010 and December 2020. The genomic DNA extracted from blood samples was analyzed by array-CGH via the Affymetrix GeneChip Genome-Wide Human single nucleotide polymorphism (SNP) and NimbleGen International Standards for Cytogenomic Arrays (ISCA) Plus Cytogenetic Arrays. The CNVs were classified into five groups: pathogenic (pathologic variant), likely pathogenic (potential pathologic variant), likely benign (potential normal genomic variant), benign (normal genomic variant), and uncertain clinical significance (variance of uncertain significance), according to the American College of Medical Genetics (ACMG) guidelines. <i>Results</i>: We identified 47 CNVs, 31 of which in 27 patients were clinically significant. The overall diagnostic yield was 33.8%. The most frequently clinically significant CNV was 15q11.2 deletion, which was present in 4 (5.0%) patients. <i>Conclusions</i>: In this study, a satisfactory diagnostic yield of array-CGH was demonstrated in a Taiwanese ASD patient cohort, supporting the clinical usefulness of array-CGH as the first-line testing of ASD in Taiwan. |
| first_indexed | 2024-03-10T01:00:26Z |
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| institution | Directory Open Access Journal |
| issn | 1010-660X 1648-9144 |
| language | English |
| last_indexed | 2024-03-10T01:00:26Z |
| publishDate | 2021-12-01 |
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| series | Medicina |
| spelling | doaj.art-30f35afe1f6243d590017c54623c85532023-11-23T14:35:32ZengMDPI AGMedicina1010-660X1648-91442021-12-015811510.3390/medicina58010015Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in TaiwanChung-Lin Lee0Chih-Kuang Chuang1Ru-Yi Tu2Huei-Ching Chiu3Yun-Ting Lo4Ya-Hui Chang5Yen-Jiun Chen6Chao-Ling Chou7Peih-Shan Wu8Chih-Ping Chen9Hsiang-Yu Lin10Shuan-Pei Lin11Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Medical Research, Division of Genetics and Metabolism, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Medical Research, Division of Genetics and Metabolism, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, TaiwanGene Biodesign Co., Ltd., Taipei 10682, TaiwanMacKay Junior College of Medicine, Nursing and Management, Taipei 10449, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan<i>Background and Objectives</i>: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNVs) and is recommended for the initial genetic testing of patients with autism spectrum disorder (ASD). This study aims to determine the diagnostic yield of array comparative genomic hybridization (array-CGH) in ASD patients from a cohort of Chinese patients in Taiwan. <i>Materials and Methods</i>: Enrolled in this study were 80 ASD children (49 males and 31 females; 2–16 years old) followed up at Taipei MacKay Memorial Hospital between January 2010 and December 2020. The genomic DNA extracted from blood samples was analyzed by array-CGH via the Affymetrix GeneChip Genome-Wide Human single nucleotide polymorphism (SNP) and NimbleGen International Standards for Cytogenomic Arrays (ISCA) Plus Cytogenetic Arrays. The CNVs were classified into five groups: pathogenic (pathologic variant), likely pathogenic (potential pathologic variant), likely benign (potential normal genomic variant), benign (normal genomic variant), and uncertain clinical significance (variance of uncertain significance), according to the American College of Medical Genetics (ACMG) guidelines. <i>Results</i>: We identified 47 CNVs, 31 of which in 27 patients were clinically significant. The overall diagnostic yield was 33.8%. The most frequently clinically significant CNV was 15q11.2 deletion, which was present in 4 (5.0%) patients. <i>Conclusions</i>: In this study, a satisfactory diagnostic yield of array-CGH was demonstrated in a Taiwanese ASD patient cohort, supporting the clinical usefulness of array-CGH as the first-line testing of ASD in Taiwan.https://www.mdpi.com/1648-9144/58/1/15autism spectrum disorderTaiwanarray-CGH |
| spellingShingle | Chung-Lin Lee Chih-Kuang Chuang Ru-Yi Tu Huei-Ching Chiu Yun-Ting Lo Ya-Hui Chang Yen-Jiun Chen Chao-Ling Chou Peih-Shan Wu Chih-Ping Chen Hsiang-Yu Lin Shuan-Pei Lin Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan Medicina autism spectrum disorder Taiwan array-CGH |
| title | Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan |
| title_full | Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan |
| title_fullStr | Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan |
| title_full_unstemmed | Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan |
| title_short | Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan |
| title_sort | increased diagnostic yield of array comparative genomic hybridization for autism spectrum disorder in one institution in taiwan |
| topic | autism spectrum disorder Taiwan array-CGH |
| url | https://www.mdpi.com/1648-9144/58/1/15 |
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