{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T07:04:31Z","timestamp":1760425471560},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T00:00:00Z","timestamp":1479859200000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital nephrotic syndrome of the Finnish type (<jats:styled-content style=\"fixed-case\">CNF<\/jats:styled-content>) is a rare autosomal recessive disorder. The incidence of <jats:styled-content style=\"fixed-case\">CNF<\/jats:styled-content> is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with <jats:styled-content style=\"fixed-case\">CNF<\/jats:styled-content>, associated with compound heterozygous mutations in <jats:italic>nephrosis 1, congenital, Finnish type<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">NPHS<\/jats:styled-content>1<\/jats:italic>). The patient was admitted to hospital as a preterm infant. Physical and laboratory findings fulfilled the diagnostic criteria of nephrotic syndrome, and were compatible with a diagnosis of <jats:styled-content style=\"fixed-case\">CNF<\/jats:styled-content>, but there was no family history of the disease. On genetic analysis of <jats:italic><jats:styled-content style=\"fixed-case\">NPHS<\/jats:styled-content>1<\/jats:italic> a paternally derived heterozygous frame\u2010shift mutation caused by an 8\u00a0bp deletion, resulting in a stop codon in exon 16 (c.2156\u20102163 del<jats:styled-content style=\"fixed-case\">TGCACTGC<\/jats:styled-content> causing p.L719DfsX4), and a novel, maternally derived nonsense mutation in exon 15 (c.1978G&gt;T causing p.E660X) were identified. Early genetic diagnosis of <jats:styled-content style=\"fixed-case\">CNF<\/jats:styled-content> is important for proper clinical management and appropriate genetic counseling.<\/jats:p>","DOI":"10.1111\/ped.13118","type":"journal-article","created":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T05:36:17Z","timestamp":1479879377000},"page":"1211-1215","source":"Crossref","is-referenced-by-count":8,"title":["Congenital nephrotic syndrome with a novel <i><scp>NPHS<\/scp>1<\/i> mutation"],"prefix":"10.1111","volume":"58","author":[{"given":"Chikage","family":"Yoshizawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Gunma University School of Medicine Maebashi Japan"},{"name":"Department of Pediatrics Gunma Central Hospital Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuko","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gunma University School of Medicine Maebashi Japan"},{"name":"Bristol Renal University of Bristol Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Ikeuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gunma University School of Medicine Maebashi Japan"},{"name":"Department of Pediatrics Gunma Central Hospital Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Tashiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gunma Central Hospital Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoko","family":"Kakegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gunma University School of Medicine Maebashi Japan"},{"name":"Department of Pediatrics Gunma Central Hospital Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gunma University School of Medicine Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimitsu","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagoya Daini Red Cross Hospital Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Wakayama Medical University Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norishige","family":"Yoshikawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Wakayama Medical University Wakayama Japan"},{"name":"Center for Clinical Research and Development National Center for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Arakawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gunma University School of Medicine Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80057-X"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn271"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2005.00202.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00859.x"},{"key":"e_1_2_7_6_1","first-page":"805","article-title":"NPHS1 mutations in a Chinese family with congenital nephrotic syndrome","volume":"43","author":"Shi Y","year":"2005","journal-title":"Zhonghua Er Ke Za 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