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In addition, he had a pelvic kidney, hypotonia, patent ductus arteriosus, abnormal pinnae, and developmental delay. Exome sequencing identified a previously unpublished <jats:italic>de novo<\/jats:italic> single nucleotide insertion in <jats:italic>PBX1<\/jats:italic> c.400dupG (NM_002585.3), predicted to cause a frameshift resulting in a truncated protein with loss of function (p.Ala134Glyfs*65). Identification of this loss of function variant supports the diagnosis of congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED). Here, we propose glaucoma as an extra\u2010renal manifestation associated with <jats:italic>PBX1<\/jats:italic>\u2010related disease due to the relationship of PBX1 with MEIS1, MEIS2, and FOXC1 transcription factors associated with eye development.<\/jats:p>","DOI":"10.1002\/ajmg.a.62576","type":"journal-article","created":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T13:28:40Z","timestamp":1637328520000},"page":"919-925","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["De novo <scp><i>PBX1<\/i><\/scp> variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the <scp>CAKUTHED<\/scp> phenotype"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5503-7324","authenticated-orcid":false,"given":"Stephanie L.","family":"Safgren","sequence":"first","affiliation":[{"name":"Department of Quantitative Health Sciences, Division of Computational 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