Detection of genomic copy number variations in patients with unexplained mental retardation/developmental delay by low coverage whole-genome sequencing
OBJECTIVE: To detect genomic copy number variations (CNVs) among 145 children with unexplained mental retardation/developmental delay (MR/DD) by using low-depth whole-genome copy number variation sequencing (CNV-seq).
METHODS: Peripheral blood samples were collected from the patients and subjected to DNA extraction and CNV-seq. The results were analyzed by a combination of bioinformatic tools.
RESULTS: Forty-nine patients were found to carry a total of 67 CNVs with an average size of 5.27 Mb. Among these, 22 patients were assessed to carry MR/DD-related CNVs involving 21 syndromes. This gave a diagnostic rate of 15.17%(22/145) for CNVs associated with unexplained MR/DD. The corresponding regions of the 22 MR/DD-related CNVs in the human genome covered 174 MR/DD-related pathogenic genes, which have mapped to 18 sections on 10 chromosomes.
CONCLUSION: Genomic CNVs-related microdeletions/duplications account for a significant proportion of unexplained MR/DD, for which CNV-seq can provide an accurate diagnosis.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:37 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 37(2020), 9 vom: 10. Sept., Seite 953-957 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Song, Hui [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 20.11.2020 Date Revised 20.11.2020 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20190922-00488 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM313942374 |
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| 245 | 1 | 0 | |a Detection of genomic copy number variations in patients with unexplained mental retardation/developmental delay by low coverage whole-genome sequencing |
| 264 | 1 | |c 2020 | |
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| 500 | |a Date Completed 20.11.2020 | ||
| 500 | |a Date Revised 20.11.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To detect genomic copy number variations (CNVs) among 145 children with unexplained mental retardation/developmental delay (MR/DD) by using low-depth whole-genome copy number variation sequencing (CNV-seq) | ||
| 520 | |a METHODS: Peripheral blood samples were collected from the patients and subjected to DNA extraction and CNV-seq. The results were analyzed by a combination of bioinformatic tools | ||
| 520 | |a RESULTS: Forty-nine patients were found to carry a total of 67 CNVs with an average size of 5.27 Mb. Among these, 22 patients were assessed to carry MR/DD-related CNVs involving 21 syndromes. This gave a diagnostic rate of 15.17%(22/145) for CNVs associated with unexplained MR/DD. The corresponding regions of the 22 MR/DD-related CNVs in the human genome covered 174 MR/DD-related pathogenic genes, which have mapped to 18 sections on 10 chromosomes | ||
| 520 | |a CONCLUSION: Genomic CNVs-related microdeletions/duplications account for a significant proportion of unexplained MR/DD, for which CNV-seq can provide an accurate diagnosis | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Shi, Panlai |e verfasserin |4 aut | |
| 700 | 1 | |a Xiao, Yanhua |e verfasserin |4 aut | |
| 700 | 1 | |a Hou, Yaqin |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Duo |e verfasserin |4 aut | |
| 700 | 1 | |a Kong, Xiangdong |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics |d 1998 |g 37(2020), 9 vom: 10. Sept., Seite 953-957 |w (DE-627)NLM093687478 |x 1003-9406 |7 nnns |
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