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All the patients underwent<jats:italic>TSC1<\/jats:italic>and<jats:italic>TSC2<\/jats:italic>genetic testing as well as renal phenotypic evaluation. All analyses were performed using the SPSS software, version 19.0, with a cut-off<jats:italic>P<\/jats:italic>value of 0.05 considered statistically significant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified variants in 93% (161\/173) cases, including 16%<jats:italic>TSC1<\/jats:italic>and 77%<jats:italic>TSC2<\/jats:italic>variants. Analysis of the relationship between the genotype and renal phenotype, revealed that those with<jats:italic>TSC2<\/jats:italic>variants were more likely to develop severe renal AML (&gt;\u20094) (<jats:italic>P<\/jats:italic>\u2009=\u20090.044). In terms of treatment,<jats:italic>TSC2<\/jats:italic>variants were more likely to undergo nephrectomy\/partial nephrectomy (<jats:italic>P<\/jats:italic>\u2009=\u20090.036) and receive mTOR medication such as everolimus (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). However, there was no significant difference between the two groups in terms of their response to the everolimus treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Patients with<jats:italic>TSC2<\/jats:italic>variants exhibit more severe renal phenotypes, especially those associated with renal angiomyolipomas (AML), and they often require nephrectomy\/partial nephrectomy or mTOR medication. Detection of the genotype is helpful in TSC management.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13023-022-02443-1","type":"journal-article","created":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T11:02:43Z","timestamp":1658574163000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China"],"prefix":"10.1186","volume":"17","author":[{"given":"Cong","family":"Luo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-shi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Xin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Ning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Feng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiong-Bing","family":"Zu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang-Le","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7773-2064","authenticated-orcid":false,"given":"Yi","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,7,23]]},"reference":[{"key":"2443_CR1","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1111\/j.1749-6632.1991.tb37754.x","volume":"615","author":"JP Osborne","year":"1991","unstructured":"Osborne JP, Fryer A, Webb D. 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This study protocol was approved by the Institutional Review Board of Xiangya Hospital, Central South University, the Institutional Review Board of Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College and the Institutional Review Board of the Affiliated Hospital of Qingdao University. All patients provided their written and signed informed consent to participate.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Patients with individual data presented have signed a written informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"288"}}