Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort
Abstract Genes of UMOD, HNF1B, MUC1, REN and SEC61A1 were reported to be associated with autosomal dominant tubulointerstitial kidney disease (ADTKD). 48 probands and their family members (N = 27) were enrolled in this genetic screening study. A combination of methods was employed for comprehensive...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2021-02-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-020-79331-w |
| _version_ | 1818684021835563008 |
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| author | Kunjing Gong Min Xia Yaqin Wang Na Wang Ying Liu Victor Wei Zhang Hong Cheng Yuqing Chen |
| author_facet | Kunjing Gong Min Xia Yaqin Wang Na Wang Ying Liu Victor Wei Zhang Hong Cheng Yuqing Chen |
| author_sort | Kunjing Gong |
| collection | DOAJ |
| description | Abstract Genes of UMOD, HNF1B, MUC1, REN and SEC61A1 were reported to be associated with autosomal dominant tubulointerstitial kidney disease (ADTKD). 48 probands and their family members (N = 27) were enrolled in this genetic screening study. A combination of methods was employed for comprehensive molecular analysis of both copy number variations (CNVs) and single nucleotide variants (SNVs). 35 probands were followed for years. The phenotype-genotype and genotype-outcome correlation were inferred from these datasets. In this cohort, 18 probands were diagnosed with ADTKD, according to Kidney Disease: Improving Global Outcomes (KDIGO) guideline. Moreover, 11 probands were diagnosed with ADTKD-UMOD, one with ADTKD-REN and one with ADTKD-HNF1B, based on molecularly confirmed pathogenic variants. The 11 UMOD variants were mainly located in codons 28 to 289 and half of the variants were found to change the cysteine amino acid. According to the follow-up data, suspected ADTKD individuals had a better prognosis compared to ADTKD individuals (p = 0.029). Individuals with a cysteine substitution in the UMOD gene appeared to have a better prognosis than individuals with other amino acid substitutions (p = 0.015). |
| first_indexed | 2024-12-17T10:44:01Z |
| format | Article |
| id | doaj.art-395b78d9163c44279cf51937c42455e6 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-17T10:44:01Z |
| publishDate | 2021-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-395b78d9163c44279cf51937c42455e62022-12-21T21:52:10ZengNature PortfolioScientific Reports2045-23222021-02-0111111010.1038/s41598-020-79331-wAutosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohortKunjing Gong0Min Xia1Yaqin Wang2Na Wang3Ying Liu4Victor Wei Zhang5Hong Cheng6Yuqing Chen7Renal Division, Department of Medicine, Peking University First HospitalRenal Division, Department of Medicine, Peking University First HospitalRenal Division, Department of Medicine, Peking University First HospitalRenal Division, Department of Medicine, Peking University First HospitalRenal Division, Department of Medicine, Peking University First HospitalAmCare Genomics LaboratoryDivision of Nephrology, Beijing AnZhen Hospital, Capital Medical UniversityRenal Division, Department of Medicine, Peking University First HospitalAbstract Genes of UMOD, HNF1B, MUC1, REN and SEC61A1 were reported to be associated with autosomal dominant tubulointerstitial kidney disease (ADTKD). 48 probands and their family members (N = 27) were enrolled in this genetic screening study. A combination of methods was employed for comprehensive molecular analysis of both copy number variations (CNVs) and single nucleotide variants (SNVs). 35 probands were followed for years. The phenotype-genotype and genotype-outcome correlation were inferred from these datasets. In this cohort, 18 probands were diagnosed with ADTKD, according to Kidney Disease: Improving Global Outcomes (KDIGO) guideline. Moreover, 11 probands were diagnosed with ADTKD-UMOD, one with ADTKD-REN and one with ADTKD-HNF1B, based on molecularly confirmed pathogenic variants. The 11 UMOD variants were mainly located in codons 28 to 289 and half of the variants were found to change the cysteine amino acid. According to the follow-up data, suspected ADTKD individuals had a better prognosis compared to ADTKD individuals (p = 0.029). Individuals with a cysteine substitution in the UMOD gene appeared to have a better prognosis than individuals with other amino acid substitutions (p = 0.015).https://doi.org/10.1038/s41598-020-79331-w |
| spellingShingle | Kunjing Gong Min Xia Yaqin Wang Na Wang Ying Liu Victor Wei Zhang Hong Cheng Yuqing Chen Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort Scientific Reports |
| title | Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort |
| title_full | Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort |
| title_fullStr | Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort |
| title_full_unstemmed | Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort |
| title_short | Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort |
| title_sort | autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a chinese cohort |
| url | https://doi.org/10.1038/s41598-020-79331-w |
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