Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome
OBJECTIVE: To detect potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT).
METHODS: All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay.
RESULTS: The probands of pedigrees 1 and 2 have respectively carried a c.965C>G and a c.1157_1197del41 variant of the MECP2 gene, while the proband of pedigree 3 carried a heterozygous deletional variant in exon 4 of the MECP2 gene.
CONCLUSION: Variants of the MECP2 gene probably underlay the RTT in the three pedigrees. Above finding has enriched the spectrum of MECP2 gene variants, and provided a guidance for the patients upon preimplantation genetic testing and prenatal 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 968-971 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Niu, Yuping [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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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.cn511374-20200310-00152 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM313942390 |
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| 245 | 1 | 0 | |a Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome |
| 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 potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT) | ||
| 520 | |a METHODS: All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay | ||
| 520 | |a RESULTS: The probands of pedigrees 1 and 2 have respectively carried a c.965C>G and a c.1157_1197del41 variant of the MECP2 gene, while the proband of pedigree 3 carried a heterozygous deletional variant in exon 4 of the MECP2 gene | ||
| 520 | |a CONCLUSION: Variants of the MECP2 gene probably underlay the RTT in the three pedigrees. Above finding has enriched the spectrum of MECP2 gene variants, and provided a guidance for the patients upon preimplantation genetic testing and prenatal diagnosis | ||
| 650 | 4 | |a Journal Article | |
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| 700 | 1 | |a Li, Jie |e verfasserin |4 aut | |
| 700 | 1 | |a Huang, Sexin |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Peiwen |e verfasserin |4 aut | |
| 700 | 1 | |a Gao, Yuan |e verfasserin |4 aut | |
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