{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:24:57Z","timestamp":1792092297659,"version":"4.4.0"},"reference-count":17,"publisher":"BMJ","issue":"6","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2017,1,25]]},"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations in <jats:italic>WDR73<\/jats:italic> (OMIM: 616144). However, not all patients harbour demonstrable <jats:italic>WDR73<\/jats:italic> deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Autozygosity mapping and candidate analysis was used to identify deleterious variants in consanguineous families. Analysis of patient fibroblasts was used to study splicing and alterations in cellular function.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping in <jats:italic>nucleoporin, 107-KD<\/jats:italic> (<jats:italic>NUP107<\/jats:italic>). The founder mutation was associated with concomitant reduction in NUP107 protein and in the obligate binding partner NUP133 protein, as well as density of nuclear pores in patient cells.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Recently, <jats:italic>NUP107<\/jats:italic> was suggested as a candidate in a family with nephrotic syndrome and developmental delay. Other <jats:italic>NUP107<\/jats:italic>-reported cases had isolated renal phenotypes. With the addition of these individuals, we implicate an allele-specific critical role for <jats:italic>NUP107<\/jats:italic> in the regulation of brain growth and a GAMOS-like presentation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2016-104237","type":"journal-article","created":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T21:00:40Z","timestamp":1489093240000},"page":"399-403","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":87,"title":["Homozygous mutation in <i>NUP107<\/i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome"],"prefix":"10.1136","volume":"54","author":[{"given":"Rasim Ozgur","family":"Rosti","sequence":"first","affiliation":[{"name":"Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bethany N","family":"Sotak","sequence":"additional","affiliation":[{"name":"Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L","family":"Bielas","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gifty","family":"Bhat","sequence":"additional","affiliation":[{"name":"Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA"},{"name":"Division of Pediatric Genetics , The Children\u2019s Hospital at Montefiore, Bronx, Bronx, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L","family":"Silhavy","sequence":"additional","affiliation":[{"name":"Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayca Dilruba","family":"Aslanger","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ko\u00e7 University Hospital, Istanbul 34010, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Department Medical Genetics, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilmay","family":"Bilge","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Ko\u00e7 University Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Tasdemir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Ko\u00e7 University Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda D","family":"Yzaguirrem","sequence":"additional","affiliation":[{"name":"Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damir","family":"Musaev","sequence":"additional","affiliation":[{"name":"Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Infante","sequence":"additional","affiliation":[{"name":"Laboratory for 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