{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:54:28Z","timestamp":1791104068583,"version":"4.1.0"},"reference-count":24,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2013,9,26]],"date-time":"2013-09-26T00:00:00Z","timestamp":1380153600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,9,26]],"date-time":"2013-09-26T00:00:00Z","timestamp":1380153600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Clin Pract"],"abstract":"<b><i>Background and Aim:<\/i><\/b> Focal segmental glomerulosclerosis (FSGS) is a common cause of idiopathic nephrotic syndrome in adults (35%). A number of genetic and familial forms of FSGS have been recognized. Here, we report a large pedigree with a pathogenic mutation in <i>LMNA<\/i> (R349W) in which four members were found to have biopsy-proven FSGS. The <i>LMNA<\/i> gene codes for lamins A and C, major components of the nuclear lamina which function in nuclear architecture, integrity and the regulation of gene expression. <b><i>Methods:<\/i><\/b> Pedigree screening and mutation analysis of <i>LMNA<\/i> gene in all family members. Renal biopsies were performed in proteinuric patients. A molecular 3D model of the familial <i>LMNA<\/i> mutation was constructed. <b><i>Results:<\/i><\/b> There were a total of 16 affected members from four generations, 12 of whom were found to carry the germline <i>LMNA<\/i> mutation. All affected adults had clinical features of familial partial lipodystrophy (FPLD) of the non-Dunnigan variety. Four patients within the same generation presented with a variable degree of renal impairment and proteinuria. Renal biopsies from all four revealed FSGS. The familial mutation is a missense change (R349W) in exon 6 of LMNA (c.1045C>T). <b><i>Conclusions:<\/i><\/b> We report a genetic link between <i>LMNA<\/i> and biopsy-proven FSGS in a large pedigree with FPLD. This unexpected association extends the disease spectrum of <i>LMNA<\/i> to the kidney and suggests that the physiological role of <i>LMNA<\/i> could be relevant to the maintenance of glomerular structure and function.<\/jats:p>","DOI":"10.1159\/000354716","type":"journal-article","created":{"date-parts":[[2013,9,26]],"date-time":"2013-09-26T14:05:43Z","timestamp":1380204343000},"page":"31-37","source":"Crossref","is-referenced-by-count":39,"title":["Cosegregation of Focal Segmental Glomerulosclerosis in a Family with Familial Partial Lipodystrophy due to a Mutation in <b><i>LMNA<\/i><\/b>"],"prefix":"10.1159","volume":"124","author":[{"given":"Kah Mean","family":"Thong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaoxian","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackie","family":"Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Takou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bisher","family":"Kawar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert C.M.","family":"Ong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2013,9,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ymgme.2005.10.018"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159%2F000076396"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.32331"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007%2Fs12020-008-9127-1"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2003-032140"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.2215%2FCJN.01271005"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.2169%2Finternalmedicine1962.28.534"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.ajkd.2003.10.024"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2F323560a0"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2FBF01726689"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1006%2Fjsbi.1998.3987"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.2310%2F6650.2006.05068"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMra025261"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.2337%2Fdiacare.26.6.1819"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002%2F1098-1004%28200012%2916%3A6%3C451%3A%3AAID-HUMU1%3E3.0.CO%3B2-9"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1086%2F302836"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1097%2F01.md.0000111061.69212.59"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1084%2Fjem.177.6.1827"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jmb.2004.08.093"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1242%2Fjcs.01102"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1469-7580.2007.00715.x"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI119815"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1159%2F000285844"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddi316"}],"container-title":["Nephron Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354716","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354716","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:48:46Z","timestamp":1745434126000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000354716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,26]]},"references-count":24,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[2013,12,1]]},"published-print":{"date-parts":[[2013,12,4]]}},"URL":"https:\/\/doi.org\/10.1159\/000354716","archive":["Portico"],"relation":{},"ISSN":["1660-2110"],"issn-type":[{"value":"1660-2110","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,26]]}}}