Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene
OBJECTIVE: To explore the genetic etiology and differential diagnosis for a patient with jaundice.
METHODS: Clinical data of the patient and his parents were collected. Genes associated with metabolic liver diseases were subjected to high-throughput sequencing. The pathogenicity of the candidate variants was predicted by using bioinformatics software.
RESULTS: High-throughput sequencing revealed that the proband has harbored two variants of the ABCC2 gene (NM_000392) including c.3011C>T (p.T1004I) and c.3541C>T (p.R1181X), which were respectively inherited from his father and mother. Both variants have been previously unreported and predicted to be pathogenic by bioinformatics analysis.
CONCLUSION: The proband was diagnosed with Dubin-Johnson syndrome due to the compound heterozygous variants of the ABCC2 gene. Genetic testing has enabled accurate differential diagnosis of Dubin-Johnson syndrome in this patient.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:39 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 39(2022), 9 vom: 10. Sept., Seite 974-978 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Zhao, Ganye [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Completed 12.09.2022 Date Revised 12.09.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20210530-00458 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM345996267 |
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| 245 | 1 | 0 | |a Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
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| 500 | |a Date Completed 12.09.2022 | ||
| 500 | |a Date Revised 12.09.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To explore the genetic etiology and differential diagnosis for a patient with jaundice | ||
| 520 | |a METHODS: Clinical data of the patient and his parents were collected. Genes associated with metabolic liver diseases were subjected to high-throughput sequencing. The pathogenicity of the candidate variants was predicted by using bioinformatics software | ||
| 520 | |a RESULTS: High-throughput sequencing revealed that the proband has harbored two variants of the ABCC2 gene (NM_000392) including c.3011C>T (p.T1004I) and c.3541C>T (p.R1181X), which were respectively inherited from his father and mother. Both variants have been previously unreported and predicted to be pathogenic by bioinformatics analysis | ||
| 520 | |a CONCLUSION: The proband was diagnosed with Dubin-Johnson syndrome due to the compound heterozygous variants of the ABCC2 gene. Genetic testing has enabled accurate differential diagnosis of Dubin-Johnson syndrome in this patient | ||
| 650 | 4 | |a Journal Article | |
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| 700 | 1 | |a Liu, Li'na |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Conghui |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Qianqian |e verfasserin |4 aut | |
| 700 | 1 | |a Kong, Xiangdong |e verfasserin |4 aut | |
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