Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene
OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB).
METHODS: All exons of the COL7A1 gene and their flanking regions were subjected to PCR and Sanger sequencing. Suspected variant was validated in family members, based on which prenatal diagnosis was provided.
RESULTS: Sanger sequencing found that the proband has carried two variants of the COL7A1 gene, namely c.7289delC (p.Pro2430Glnfs*36) and c.7474C>T (p.Arg2492*), which were respectively derived from his mother and father. The same variants were not found among 100 healthy controls. By prenatal diagnosis, the fetus was found to have inherited the c.7474C>T (p.Arg2492*) variant from its father.
CONCLUSION: The pathogenic variants of the COL7A1 gene of the RDEB family were clarified, based on which prenatal diagnosis was provided.
| 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), 4 vom: 10. Apr., Seite 445-448 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Lyu, Xue [VerfasserIn] |
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| Links: |
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| Themen: |
COL7A1 protein, human |
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| Anmerkungen: |
Date Completed 02.04.2020 Date Revised 02.04.2020 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.issn.1003-9406.2020.04.020 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM308056280 |
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| 100 | 1 | |a Lyu, Xue |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene |
| 264 | 1 | |c 2020 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 02.04.2020 | ||
| 500 | |a Date Revised 02.04.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB) | ||
| 520 | |a METHODS: All exons of the COL7A1 gene and their flanking regions were subjected to PCR and Sanger sequencing. Suspected variant was validated in family members, based on which prenatal diagnosis was provided | ||
| 520 | |a RESULTS: Sanger sequencing found that the proband has carried two variants of the COL7A1 gene, namely c.7289delC (p.Pro2430Glnfs*36) and c.7474C>T (p.Arg2492*), which were respectively derived from his mother and father. The same variants were not found among 100 healthy controls. By prenatal diagnosis, the fetus was found to have inherited the c.7474C>T (p.Arg2492*) variant from its father | ||
| 520 | |a CONCLUSION: The pathogenic variants of the COL7A1 gene of the RDEB family were clarified, based on which prenatal diagnosis was provided | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a COL7A1 protein, human |2 NLM | |
| 650 | 7 | |a Collagen Type VII |2 NLM | |
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| 700 | 1 | |a Liu, Hongyan |e verfasserin |4 aut | |
| 700 | 1 | |a Chou, Haiyan |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Tao |e verfasserin |4 aut | |
| 700 | 1 | |a Zhou, Wu |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), 4 vom: 10. Apr., Seite 445-448 |w (DE-627)NLM093687478 |x 1003-9406 |7 nnns |
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