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Primary CAKUT are caused by genetic factors that impair proper in\u2010utero genitourinary tract development and secondary CAKUT result from the influence of environmental factors. The <jats:italic>CHRNA3<\/jats:italic> gene, which encodes the Alpha\u20103 subunit of the nicotinic acetylcholine receptor, is hypothesized to be associated with Megacystis\u2010microcolon\u2010intestinal hyperperistalsis syndrome. More recently, pathogenic variants in <jats:italic>CHRNA3<\/jats:italic> have been identified in individuals with CAKUT as well as individuals with panautonomic failure. Here we present a patient with neurogenic bladder, vesicoureteral reflux, mydriasis, and gastrointestinal dysmotility found to have novel compound heterozygous variants in <jats:italic>CHRNA3<\/jats:italic>. These findings support the consideration of <jats:italic>CHRNA3<\/jats:italic> disruption in the differential for CAKUT with dysautonomia and gastrointestinal dysmotility.<\/jats:p>","DOI":"10.1002\/ajmg.a.63526","type":"journal-article","created":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T07:54:27Z","timestamp":1704786867000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel <scp><i>CHRNA3<\/i><\/scp> variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2906-7342","authenticated-orcid":false,"given":"Asha","family":"Anand","sequence":"first","affiliation":[{"name":"Department of Medicine Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek","family":"Shenoy","sequence":"additional","affiliation":[{"name":"UNC School of Medicine  Chapel Hill North Carolina USA"},{"name":"UNC Department of Pediatrics UNC School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard W.","family":"Sutherland","sequence":"additional","affiliation":[{"name":"UNC School of Medicine  Chapel Hill North Carolina USA"},{"name":"UNC Department of Urology UNC School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Platt","sequence":"additional","affiliation":[{"name":"Consultant Pediatric Nephrologist"},{"name":"Bristol Royal Hospital for Children  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara C.","family":"Hildebrandt","sequence":"additional","affiliation":[{"name":"UNC School of Medicine  Chapel Hill North Carolina USA"},{"name":"UNC Department of Pediatrics UNC School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,1,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00015.2008"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2015-309784"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00098.2005"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/0974-7796.127021"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-2098-0"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom10040547"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.86.4.257"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90253-B"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.86934"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-3990-7"},{"key":"e_1_2_8_12_1","unstructured":"Franklin by Genoox. 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