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In a previous study, we identified a heterozygous truncating variant in nuclear receptor\u2010interacting protein 1 (<jats:italic>NRIP1<\/jats:italic>) as CAKUT causing via dysregulation of retinoic acid signaling. This large family remains the only family with <jats:italic>NRIP1<\/jats:italic> variant reported so far. Here, we describe one additional CAKUT family with a truncating variant in <jats:italic>NRIP1<\/jats:italic>. By whole\u2010exome sequencing, we identified one heterozygous frameshift variant (p.Asn676Lysfs*27) in an isolated CAKUT patient with bilateral hydroureteronephrosis and right grade V vesicoureteral reflux (VUR) and in the affected father with left renal hypoplasia. The variant is present twice in a heterozygous state in the gnomAD database of 125,000 control individuals. We report the second CAKUT family with a truncating variant in <jats:italic>NRIP1<\/jats:italic>, confirming that loss\u2010of\u2010function mutations in <jats:italic>NRIP1<\/jats:italic> are a novel monogenic cause of human autosomal dominant CAKUT.<\/jats:p>","DOI":"10.1002\/ajmg.a.62502","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T19:09:52Z","timestamp":1631732992000},"page":"310-313","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A truncating <scp><i>NRIP1<\/i><\/scp> variant in an Arabic family with congenital anomalies of the kidneys and urinary tract"],"prefix":"10.1002","volume":"188","author":[{"given":"Bixia","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Nephrology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Seltzsam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4872-0093","authenticated-orcid":false,"given":"Sophia","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts 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