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To date ~23 different monogenic causes have been implicated in isolated forms of human CAKUT, but the vast majority remains elusive. In a previous study, we identified a homozygous missense variant in E26 transformation\u2010specific (ETS) Variant Transcription Factor 4 (<jats:italic>ETV4<\/jats:italic>) causing CAKUT via dysregulation of the transcriptional function of ETV4, and a resulting abrogation of GDNF\/RET\/ETV4 signaling pathway. This CAKUT family remains the only family with an <jats:italic>ETV4<\/jats:italic> variant reported so far. Here, we describe one additional CAKUT family with a homozygous truncating variant in <jats:italic>ETV4<\/jats:italic> (p.(Lys6*)) that was identified by exome sequencing. The variant was found in an individual with isolated CAKUT displaying posterior urethral valves and renal dysplasia. The newly identified stop variant conceptually truncates the ETS_PEA3_N and ETS domains that regulate DNA\u2010binding transcription factor activity. The variant has never been reported homozygously in the gnomAD database. To our knowledge, we here report the first CAKUT family with a truncating variant in <jats:italic>ETV4<\/jats:italic>, potentially causing the isolated CAKUT phenotype observed in the affected individual.<\/jats:p>","DOI":"10.1002\/ajmg.a.63127","type":"journal-article","created":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T04:49:12Z","timestamp":1674622152000},"page":"1355-1359","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A homozygous truncating <scp><i>ETV4<\/i><\/scp> variant in a Nigerian family with congenital anomalies of the kidney and urinary tract"],"prefix":"10.1002","volume":"191","author":[{"given":"Caroline M.","family":"Kolvenbach","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Institute of Anatomy, Medical Faculty University of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3457-6545","authenticated-orcid":false,"given":"Bixia","family":"Zheng","sequence":"additional","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":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea M.","family":"Merz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Pediatrics University Hospital Leipzig  Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils D.","family":"Mertens","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bshara","family":"Mansour","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Seltzsam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Schierbaum","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalia","family":"Pantel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie T.","family":"van der Ven","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Institute of Human Genetics University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jibril O.","family":"Bello","sequence":"additional","affiliation":[{"name":"Department of Surgery University of Ilorin Teaching Hospital  Ilorin Nigeria"},{"name":"Department of Surgery College of Medicine, Nursing &amp; 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