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Using trio exome sequencing, we identified a <jats:italic>PBX1<\/jats:italic> p.(Arg107Trp) mutation in a deceased one\u2010day\u2010old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post\u2010zygotically in the father, with different variant allele frequencies of the mosaic <jats:italic>PBX1<\/jats:italic> mutation in blood (10%) and sperm (20%). Interestingly, the father had subclinical hydronephrosis in childhood. With an expected recurrence risk of one in five, chorionic villus sampling and prenatal diagnosis for the <jats:italic>PBX1<\/jats:italic> mutation identified recurrence in a subsequent pregnancy. The family opted to continue the pregnancy and the second affected sibling was stillborn at 35\u2009weeks, presenting with similar severe bilateral diaphragmatic eventration, microsplenia, and complete sex reversal (46, XY female). This study highlights the importance of follow\u2010up studies for presumed de novo and low\u2010level mosaic variants and broadens the phenotypic spectrum of developmental abnormalities caused by <jats:italic>PBX1<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1002\/ajmg.a.61541","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T12:50:04Z","timestamp":1583499004000},"page":"1273-1277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Paternal mosaicism for a novel <scp><i>PBX1<\/i><\/scp> mutation associated with recurrent perinatal death: Phenotypic expansion of the <scp><i>PBX1<\/i><\/scp>\u2010related syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6742-6239","authenticated-orcid":false,"given":"Peer","family":"Arts","sequence":"first","affiliation":[{"name":"Genetics and Molecular Pathology Research Laboratory, Centre for Cancer 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4408-2613","authenticated-orcid":false,"given":"Thuong","family":"Ha","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology An Alliance Between SA Pathology and the University of South Australia  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah L.","family":"King\u2010Smith","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology An Alliance Between SA Pathology and the University of South Australia  Adelaide South Australia Australia"},{"name":"Australian Genomics Health Alliance  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9081-3405","authenticated-orcid":false,"given":"Andreas W.","family":"Schreiber","sequence":"additional","affiliation":[{"name":"School of Pharmacy and Medical Sciences University of South Australia  Adelaide South Australia Australia"},{"name":"ACRF Cancer Genomics Facility, Centre for Cancer Biology An Alliance Between SA Pathology and the University of South Australia  Adelaide South Australia Australia"},{"name":"School of Biological Sciences University of Adelaide  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"April","family":"Crawford","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology SA Pathology, Women's and Children's Hospital  North Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Manton","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology SA Pathology, Women's and Children's Hospital  North Adelaide South Australia 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