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Aquaporins are membrane proteins that serve as transport channels in the transfer of water or small solutes across cell membranes. They play a role in the development of renal cysts. Aquaporin 11 (<jats:italic>AQP11<\/jats:italic>) deficient mice develop polycystic kidney disease in utero due to disruption of polycystin\u20101. Here we describe a case of bilateral cystic kidney disease in a patient with novel compound heterozygous variants in <jats:italic>AQP11<\/jats:italic>: c.780G&gt;T (p. Trp260Cys) and c.472C&gt;T (p.Pro158Ser) (NM_173039.2) identified by whole genome sequencing. These findings suggest, for the first time, the potential role of <jats:italic>AQP11<\/jats:italic> in congenital renal cystic dysplasia.<\/jats:p>","DOI":"10.1002\/ajmg.a.63056","type":"journal-article","created":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T17:13:09Z","timestamp":1669309989000},"page":"612-616","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Variants in <i>AQP11<\/i> may result in autosomal recessive bilateral cystic renal dysgenesis"],"prefix":"10.1002","volume":"191","author":[{"given":"Michael E.","family":"Price","sequence":"first","affiliation":[{"name":"University of Nebraska Medical Center, College of Medicine  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen P.","family":"Fishler","sequence":"additional","affiliation":[{"name":"Munroe\u2010Meyer Institute of Genetics and Rehabilitation University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Muff\u2010Luett","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teri J.","family":"Mauch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Nebraska Medical Center  Omaha Nebraska USA"},{"name":"Department of Pediatrics University of Utah  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Brunelli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Nebraska Medical Center  Omaha Nebraska USA"},{"name":"Department of Pediatrics University of Utah  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9059-0598","authenticated-orcid":false,"given":"Joshua C.","family":"Euteneuer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.redox.2019.101326"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18040796"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00295.2015"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1806891"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfy219"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012375"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20020366"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1681\/asn.2013060614"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpregu.90464.2008"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-1203-5_17"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2017.1358263"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2021.3496"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.25.17.7770-7779.2005"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2005.01477.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2018.08.013"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.08-111872"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00065.2016"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000449394"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00304.2019"},{"key":"e_1_2_9_21_1","volume-title":"GeneReviews","author":"Sweeney W. 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