Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
Background: Whole-exome sequencing (WES) has been recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (NDDs). We aimed to identify the genetic causes of 17 children with developmental delay (DD) and/or intellectual disability (ID).Methods: WES and e...
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Frontiers Media S.A.
2021
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oai:doaj.org-article:17e229f435934f64ad7f4b78e7b00f102021-11-10T07:22:13ZGenetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing1664-802110.3389/fgene.2021.738561https://doaj.org/article/17e229f435934f64ad7f4b78e7b00f102021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.738561/fullhttps://doaj.org/toc/1664-8021Background: Whole-exome sequencing (WES) has been recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (NDDs). We aimed to identify the genetic causes of 17 children with developmental delay (DD) and/or intellectual disability (ID).Methods: WES and exome-based copy number variation (CNV) analysis were performed for 17 patients with unexplained DD/ID.Results: Single-nucleotide variant (SNV)/small insertion or deletion (Indel) analysis and exome-based CNV calling yielded an overall diagnostic rate of 58.8% (10/17), of which diagnostic SNVs/Indels accounted for 41.2% (7/17) and diagnostic CNVs accounted for 17.6% (3/17).Conclusion: Our findings expand the known mutation spectrum of genes related to DD/ID and indicate that exome-based CNV analysis could improve the diagnostic yield of patients with DD/ID.Jingjing XiangJingjing XiangYang DingYang DingFei YangFei YangAng GaoAng GaoWei ZhangWei ZhangHui TangHui TangJun MaoJun MaoQuanze HeQuanze HeQin ZhangQin ZhangTing WangTing WangFrontiers Media S.A.articlewhole-exome sequencingdevelopmental delayintellectual disabilityexome-based CNV analysisvariantsGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021) |
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whole-exome sequencing developmental delay intellectual disability exome-based CNV analysis variants Genetics QH426-470 |
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whole-exome sequencing developmental delay intellectual disability exome-based CNV analysis variants Genetics QH426-470 Jingjing Xiang Jingjing Xiang Yang Ding Yang Ding Fei Yang Fei Yang Ang Gao Ang Gao Wei Zhang Wei Zhang Hui Tang Hui Tang Jun Mao Jun Mao Quanze He Quanze He Qin Zhang Qin Zhang Ting Wang Ting Wang Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing |
| description |
Background: Whole-exome sequencing (WES) has been recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (NDDs). We aimed to identify the genetic causes of 17 children with developmental delay (DD) and/or intellectual disability (ID).Methods: WES and exome-based copy number variation (CNV) analysis were performed for 17 patients with unexplained DD/ID.Results: Single-nucleotide variant (SNV)/small insertion or deletion (Indel) analysis and exome-based CNV calling yielded an overall diagnostic rate of 58.8% (10/17), of which diagnostic SNVs/Indels accounted for 41.2% (7/17) and diagnostic CNVs accounted for 17.6% (3/17).Conclusion: Our findings expand the known mutation spectrum of genes related to DD/ID and indicate that exome-based CNV analysis could improve the diagnostic yield of patients with DD/ID. |
| format |
article |
| author |
Jingjing Xiang Jingjing Xiang Yang Ding Yang Ding Fei Yang Fei Yang Ang Gao Ang Gao Wei Zhang Wei Zhang Hui Tang Hui Tang Jun Mao Jun Mao Quanze He Quanze He Qin Zhang Qin Zhang Ting Wang Ting Wang |
| author_facet |
Jingjing Xiang Jingjing Xiang Yang Ding Yang Ding Fei Yang Fei Yang Ang Gao Ang Gao Wei Zhang Wei Zhang Hui Tang Hui Tang Jun Mao Jun Mao Quanze He Quanze He Qin Zhang Qin Zhang Ting Wang Ting Wang |
| author_sort |
Jingjing Xiang |
| title |
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing |
| title_short |
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing |
| title_full |
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing |
| title_fullStr |
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing |
| title_full_unstemmed |
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing |
| title_sort |
genetic analysis of children with unexplained developmental delay and/or intellectual disability by whole-exome sequencing |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/17e229f435934f64ad7f4b78e7b00f10 |
| work_keys_str_mv |
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