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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 <jats:italic>UMOD<\/jats:italic> 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\u2009=\u20090.029). Individuals with a cysteine substitution in the <jats:italic>UMOD<\/jats:italic> gene appeared to have a better prognosis than individuals with other amino acid substitutions (p\u2009=\u20090.015).<\/jats:p>","DOI":"10.1038\/s41598-020-79331-w","type":"journal-article","created":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T11:03:58Z","timestamp":1613041438000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort"],"prefix":"10.1038","volume":"11","author":[{"given":"Kunjing","family":"Gong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaqin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Wei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7908-3333","authenticated-orcid":false,"given":"Hong","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,11]]},"reference":[{"key":"79331_CR1","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1038\/ki.2015.28","volume":"88","author":"KU Eckardt","year":"2015","unstructured":"Eckardt, K. 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