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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Autores principales:	Kunjing Gong, Min Xia, Yaqin Wang, Na Wang, Ying Liu, Victor Wei Zhang, Hong Cheng, Yuqing Chen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/395b78d9163c44279cf51937c42455e6
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spelling	oai:doaj.org-article:395b78d9163c44279cf51937c42455e62021-12-02T14:11:32ZAutosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort10.1038/s41598-020-79331-w2045-2322https://doaj.org/article/395b78d9163c44279cf51937c42455e62021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-79331-whttps://doaj.org/toc/2045-2322Abstract 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).Kunjing GongMin XiaYaqin WangNa WangYing LiuVictor Wei ZhangHong ChengYuqing ChenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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
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).
format	article
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
title	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_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_sort	autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a chinese cohort
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/395b78d9163c44279cf51937c42455e6
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Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort

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