{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:53:02Z","timestamp":1791114782121,"version":"4.1.0"},"reference-count":31,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most common genetic cause of renal failure in the first three decades of life. Using positional cloning, six genes (<jats:italic>NPHP1<\/jats:italic>-<jats:italic>6<\/jats:italic>) have been identified as mutated in NPHP. In Joubert syndrome (JBTS), NPHP may be associated with cerebellar vermis aplasia\/hypoplasia, retinal degeneration and mental retardation. In Senior\u2013L\u00f8ken syndrome (SLSN), NPHP is associated with retinal degeneration. Recently, mutations in <jats:italic>NPHP6\/CEP290<\/jats:italic> were identified as a new cause of JBTS.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> Mutational analysis was performed on a worldwide cohort of 75 families with SLSN, 99 families with JBTS and 21 families with isolated nephronophthisis.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Six novel and six known truncating mutations, one known missense mutation and one novel 3 bp pair in-frame deletion were identified in a total of seven families with JBTS, two families with SLSN and one family with isolated NPHP.<\/jats:p>","DOI":"10.1136\/jmg.2007.052027","type":"journal-article","created":{"date-parts":[[2007,7,6]],"date-time":"2007-07-06T20:56:20Z","timestamp":1183755380000},"page":"657-663","source":"Crossref","is-referenced-by-count":93,"title":["Mutation analysis of <i>NPHP6<\/i>\/<i>CEP290<\/i> in patients with Joubert syndrome and Senior\u2013L\u00f8ken syndrome"],"prefix":"10.1136","volume":"44","author":[{"given":"Juliana","family":"Helou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar A","family":"Otto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Attanasio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A","family":"Parisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Glass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Utsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema","family":"Hashmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Fazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F","family":"O\u2019Toole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A","family":"Sayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,7,6]]},"reference":[{"key":"2025101712240660000_44.10.657.1","unstructured":"Hildebrandt F, Sayer J A. Nephronophthisis-medullary cystic disease complex. In: Schrier RW, ed. Diseases of the kidney and urinary tract, 8 ed. Philadelphia: Wolters Kluwer Health\/Lippincott Williams & Wilkins 2007:479\u2013501."},{"key":"2025101712240660000_44.10.657.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-149"},{"key":"2025101712240660000_44.10.657.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1217"},{"key":"2025101712240660000_44.10.657.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1216"},{"key":"2025101712240660000_44.10.657.5","doi-asserted-by":"publisher","DOI":"10.1086\/344395"},{"key":"2025101712240660000_44.10.657.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng996"},{"key":"2025101712240660000_44.10.657.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng1520"},{"key":"2025101712240660000_44.10.657.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng1786"},{"key":"2025101712240660000_44.10.657.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng1805"},{"key":"2025101712240660000_44.10.657.10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201648"},{"key":"2025101712240660000_44.10.657.11","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/S0272-6386(98)70083-6","volume":"32","year":"1998","journal-title":"Am J Kidney Dis"},{"key":"2025101712240660000_44.10.657.12","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfl088"},{"key":"2025101712240660000_44.10.657.13","first-page":"125","volume":"125","year":"2004","journal-title":"Am J Med Genet"},{"key":"2025101712240660000_44.10.657.14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430415"},{"key":"2025101712240660000_44.10.657.15","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C"},{"key":"2025101712240660000_44.10.657.16","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20422"},{"key":"2025101712240660000_44.10.657.17","doi-asserted-by":"publisher","DOI":"10.1086\/302655"},{"key":"2025101712240660000_44.10.657.18","doi-asserted-by":"publisher","DOI":"10.1086\/378206"},{"key":"2025101712240660000_44.10.657.19","doi-asserted-by":"publisher","DOI":"10.1086\/425985"},{"key":"2025101712240660000_44.10.657.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng1419"},{"key":"2025101712240660000_44.10.657.21","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-005-2054-y"},{"key":"2025101712240660000_44.10.657.22","doi-asserted-by":"publisher","DOI":"10.1086\/510499"},{"key":"2025101712240660000_44.10.657.23","doi-asserted-by":"publisher","DOI":"10.1086\/519026"},{"key":"2025101712240660000_44.10.657.24","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006101164"},{"key":"2025101712240660000_44.10.657.25","doi-asserted-by":"publisher","DOI":"10.1086\/507318"},{"key":"2025101712240660000_44.10.657.26","first-page":"416","volume":"28","year":"2007","journal-title":"Hum Mutat"},{"key":"2025101712240660000_44.10.657.27","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl107"},{"key":"2025101712240660000_44.10.657.28","first-page":"411","volume":"25","year":"2005","journal-title":"Hum Mutat"},{"key":"2025101712240660000_44.10.657.29","doi-asserted-by":"crossref","unstructured":"Otto E A, Helou J, Susan J A, O\u2019Toole J F, Attanasio M, Hildebrandt F. Mutational analysis in nephronophthisis: applying a combined approach of deletion analysis, homozygosity mapping, CEL I endonuclease cleavage and direct sequencing. 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