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It is part of Galloway-Mowat syndrome, a rare condition that includes a severe form of progressive nephropathy and prominent central nervous system features. The most common renal manifestation is steroid-resistant nephrotic syndrome. Mutations in the transcriptional regulator\n                      <jats:italic toggle=\"yes\">PRDM15<\/jats:italic>\n                      are a novel monogenic cause of both isolated early-onset nephrotic syndrome and Galloway-Mowat syndrome. Identifying variants in\n                      <jats:italic toggle=\"yes\">PRDM15<\/jats:italic>\n                      in these disorders provides insight into the molecular pathogenesis of nephrotic syndrome and implicates the gene as an important regulator of renal development.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children progress to renal failure. The discovery of monogenic causes of GAMOS has uncovered molecular pathways involved in the pathogenesis of disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Homozygosity mapping, whole-exome sequencing, and linkage analysis were used to identify mutations in four families with a GAMOS-like phenotype, and high-throughput PCR technology was applied to 91 individuals with GAMOS and 816 individuals with isolated nephrotic syndrome.\n                      <jats:italic toggle=\"yes\">In vitro<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">in vivo<\/jats:italic>\n                      studies determined the functional significance of the mutations identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three biallelic variants of the transcriptional regulator\n                      <jats:italic toggle=\"yes\">PRDM15<\/jats:italic>\n                      were detected in six families with proteinuric kidney disease. Four families with a variant in the protein\u2019s zinc-finger (ZNF) domain have additional GAMOS-like features, including brain anomalies, cardiac defects, and skeletal defects. All variants destabilize the PRDM15 protein, and the ZNF variant additionally interferes with transcriptional activation. Morpholino oligonucleotide-mediated knockdown of Prdm15 in\n                      <jats:italic toggle=\"yes\">Xenopus<\/jats:italic>\n                      embryos disrupted pronephric development. Human wild-type\n                      <jats:italic toggle=\"yes\">PRDM15<\/jats:italic>\n                      RNA rescued the disruption, but the three\n                      <jats:italic toggle=\"yes\">PRDM15<\/jats:italic>\n                      variants did not. Finally, CRISPR-mediated knockout of\n                      <jats:italic toggle=\"yes\">PRDM15<\/jats:italic>\n                      in human podocytes led to dysregulation of several renal developmental genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Variants in\n                      <jats:italic toggle=\"yes\">PRDM15<\/jats:italic>\n                      can cause either isolated nephrotic syndrome or a GAMOS-type syndrome on an allelic basis. PRDM15 regulates multiple developmental kidney genes, and is likely to play an essential role in renal development in humans.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2020040490","type":"journal-article","created":{"date-parts":[[2021,2,16]],"date-time":"2021-02-16T12:54:24Z","timestamp":1613480064000},"page":"580-596","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":31,"title":["Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome"],"prefix":"10.1681","volume":"32","author":[{"given":"Nina","family":"Mann","sequence":"first","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Slim","family":"Mzoughi","sequence":"additional","affiliation":[{"name":"Methyltransferases in Development and Disease Group, Institute of Molecular and Cell 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