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To identify additional monogenic disease causes, we here performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping in three affected siblings of an Indian family with GAMOS. Applying established criteria for variant filtering, we identify a novel homozygous splice site mutation in the gene\n                    <jats:italic>WDR4<\/jats:italic>\n                    as the likely disease\u2010causing mutation in this family. In line with previous reports, we observe growth deficiency, microcephaly, developmental delay, and intellectual disability as phenotypic features resulting from\n                    <jats:italic>WDR4<\/jats:italic>\n                    mutations. However, the newly identified allele additionally gives rise to proteinuria and nephrotic syndrome, a phenotype that was never reported in patients with\n                    <jats:italic>WDR4<\/jats:italic>\n                    mutations. Our data thus expand the phenotypic spectrum of\n                    <jats:italic>WDR4<\/jats:italic>\n                    mutations by demonstrating that, depending on the specific mutated allele, a renal phenotype may be present. This finding suggests that GAMOS may occupy a phenotypic spectrum with other microcephalic diseases. Furthermore,\n                    <jats:italic>WDR4<\/jats:italic>\n                    is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. Our findings thereby support the recent observation that, like neurons, podocytes of the renal glomerulus are particularly vulnerable to cellular defects resulting from altered tRNA modifications.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.40489","type":"journal-article","created":{"date-parts":[[2018,8,7]],"date-time":"2018-08-07T05:31:19Z","timestamp":1533619879000},"page":"2460-2465","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":91,"title":["Mutations in\n                    <i>WDR4<\/i>\n                    as a new cause of Galloway\u2013Mowat syndrome"],"prefix":"10.1002","volume":"176","author":[{"given":"Daniela A.","family":"Braun","sequence":"first","affiliation":[{"name":"Department of Medicine, Boston Children's Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirlee","family":"Shril","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children's Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditi","family":"Sinha","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children's Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weizhen","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children's Hospital Harvard Medical School  Boston 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