{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:45:23Z","timestamp":1791351923299,"version":"4.3.1"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"6","funder":[{"name":"Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background: NUP107 is a novel gene associated with autosomal recessive steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis (FSGS) in children. The frequency of NUP107 mutations in children with SR-FSGS remains unknown.<\/jats:p>\n                  <jats:p>Methods: Nine families with two siblings affected by childhood-onset SRNS or proteinuria were recruited. FSGS was confirmed by a kidney biopsy in at least one affected sibling in all families. Additionally, 69 sporadic pediatric cases with biopsy-proven SR-FSGS who had not responded to any treatment were included. All coding exons with flanking introns of the NUP107 gene were amplified using polymerase chain reaction and directly sequenced.<\/jats:p>\n                  <jats:p>Results: Biallelic NUP107 mutations were detected in four pairs (44.4%) of siblings from the familial cases and three (4.3%) sporadic cases. All affected patients harbored the p.Asp831Ala mutation in one allele and a truncating or abnormal splicing mutation in the other allele. NUP107 mutation-positive patients showed an earlier onset age (39.4 \u00b1 13.1 versus 76.8 \u00b1 50.0 months, P= 0.027) and more rapid progression to end-stage renal disease (at the ages of 58.9 \u00b1 23.4 versus 123.1 \u00b1 62.7 months, P&amp;lt;0.001) compared with mutation-negative patients. None of the eight mutation-positive cases, who underwent kidney transplantation, showed recurrence of FSGS in the graft kidney, while 35.3% of mutation-negative cases showed recurrence of FSGS.<\/jats:p>\n                  <jats:p>Conclusions: An unexpectedly high incidence of NUP107 mutations was observed in Korean children with SR-FSGS. Initial genetic screening of children with SR-FSGS should include the NUP107 gene, at least in Korea. Further studies are necessary to determine the incidences of NUP107 mutations in other countries.<\/jats:p>","DOI":"10.1093\/ndt\/gfw103","type":"journal-article","created":{"date-parts":[[2016,5,17]],"date-time":"2016-05-17T20:58:57Z","timestamp":1463518737000},"page":"1013-1017","source":"Crossref","is-referenced-by-count":22,"title":["<i>NUP107<\/i>\n                    mutations in children with steroid-resistant nephrotic syndrome"],"prefix":"10.1093","volume":"32","author":[{"given":"Eujin","family":"Park","sequence":"first","affiliation":[{"name":"Seoul National University Children's Hospital 1 Department of Pediatrics , , Seoul ,","place":["Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yo Han","family":"Ahn","sequence":"additional","affiliation":[{"name":"Seoul National University Children's Hospital 1 Department of Pediatrics , , Seoul ,","place":["Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee Gyung","family":"Kang","sequence":"additional","affiliation":[{"name":"Seoul National University Children's Hospital 1 Department of Pediatrics , , Seoul ,","place":["Korea"]},{"name":"Seoul National University Hospital 2 Research Coordination Center for Rare Diseases , , Seoul ,","place":["Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Yokohama City University Graduate School of Medicine 3 Department of Human Genetics , , Yokohama ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyasu","family":"Tsukaguchi","sequence":"additional","affiliation":[{"name":"Kansai Medical University 4 Second Department of Internal Medicine , , Osaka ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae Il","family":"Cheong","sequence":"additional","affiliation":[{"name":"Seoul National University Children's Hospital 1 Department of 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