{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:45:54Z","timestamp":1747187154613,"version":"3.40.5"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T00:00:00Z","timestamp":1695945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["5\/4\/7\u20104\/Nephro\/2020\u2010NCD\u2010II"],"award-info":[{"award-number":["5\/4\/7\u20104\/Nephro\/2020\u2010NCD\u2010II"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Accurate genetic diagnosis of end\u2010stage renal disease patients with a family history of renal dysfunction is very essential. It not only helps in proper prognosis, but becomes crucial in designating donor for live related renal transplant. We here present a case of family with deleterious mutations in <jats:italic>INF2<\/jats:italic> and <jats:italic>ROBO2<\/jats:italic> and its importance of genetic testing before preparing for kidney transplantation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>We report the case of a 29\u2010year\u2010female with end\u2010stage renal disease and rapidly progressive renal failure. Mutational analysis revealed an Autosomal Dominant inheritance pattern and mutation in exon 4 of the <jats:italic>INF2<\/jats:italic> gene (p. Thr215Ser) and exon 26 of the <jats:italic>ROBO2<\/jats:italic> gene (p. Arg1371Cys). Her mother was diagnosed for CKD stage 4 with creatinine level of 4.3\u2009mg\/dL. Genetic variants (<jats:italic>INF2<\/jats:italic> and <jats:italic>ROBO2<\/jats:italic>) identified in proband were tested in her sisters and mother. Her elder sister was positive for both heterozygous variants (<jats:italic>INF2<\/jats:italic> and <jats:italic>ROBO2<\/jats:italic>). Her mother was positive for mutation in <jats:italic>INF2<\/jats:italic> gene, and her donor elder sister did not showed mutation in <jats:italic>INF2<\/jats:italic> gene and had mutation in <jats:italic>ROBO2<\/jats:italic> gene without any clinical symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case report emphasize that familial genetic screening has allowed us in allocating the donor selection in family where family member had history of genetic defect of Chronic Kidney Disease. Information of the causative renal disorder is extremely valuable for risk\u2010assessment and planning of kidney transplantation.<\/jats:p><jats:p><jats:boxed-text content-type=\"graphic\" position=\"anchor\"><jats:graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" mimetype=\"image\/png\" position=\"anchor\" specific-use=\"enlarged-web-image\" xlink:href=\"graphic\/nep14244-gra-0001-m.png\"><jats:alt-text>image<\/jats:alt-text><\/jats:graphic><\/jats:boxed-text><\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.14244","type":"journal-article","created":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T09:08:48Z","timestamp":1695978528000},"page":"48-54","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp><i>INF2<\/i><\/scp> and <scp><i>ROBO2<\/i><\/scp> gene mutation in an Indian family with end stage renal failure and follow\u2010up of renal 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