{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T08:47:00Z","timestamp":1788684420414,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,8,22]],"date-time":"2016-08-22T00:00:00Z","timestamp":1471824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Mutations of <jats:italic>LMX1B<\/jats:italic> cause nail\u2010patella syndrome, a rare autosomal dominant disorder. Recently, <jats:italic>LMX1B<\/jats:italic> R246Q heterozygous mutations were recognised in nephropathy without extrarenal manifestation. The aim of this study was to clarify characteristics of nephropathy caused by R246Q mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing was performed on a large family with nonsyndromic autosomal dominant nephropathy without extrarenal manifestation. Clinical and histological findings of patients with <jats:italic>LMX1B<\/jats:italic> mutation were investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>LMX1B<\/jats:italic> R246Q heterozygous mutation was identified in five patients over three generations. Proteinuria or haematoproteinuria was recognized by urinary screening from all patients in childhood. Proteinuria gradually increased to nephrotic levels and renal function decreased in adolescence. Two patients progressed to end\u2010stage renal disease in adulthood. Renal histology demonstrated minimal change in childhood and focal segmental glomerulosclerosis in adulthood. Using electron microscopy, focal collagen deposition could be detected in glomeruli even when a \u201cmoth\u2010eaten appearance\u201d was not apparent in the glomerular basement membrane. In addition, podocin expression in glomerular podocytes was significantly decreased, even in the early stages of disease progression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Comprehensive genetic analyses and collagen or tannic acid staining may be useful for diagnosis of <jats:italic>LMX1B<\/jats:italic>\u2010associated nephropathy. While renal prognosis of R246Q may be worse than that of typical NPS nephropathy, signs of podocytopathy can be detected during the infantile period; thus, childhood urinary screening may facilitate early detection.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nep.12666","type":"journal-article","created":{"date-parts":[[2015,11,11]],"date-time":"2015-11-11T16:12:40Z","timestamp":1447258360000},"page":"765-773","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Clinical and histological findings of autosomal dominant renal\u2010limited disease with <i>LMX1B<\/i> mutation"],"prefix":"10.1111","volume":"21","author":[{"given":"Takao","family":"Konomoto","sequence":"first","affiliation":[{"name":"Division of Pediatrics, Department of Developmental and Urological\u2010Reproductive Medicine, Faculty of Medicine University of Miyazaki  Miyazaki 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Developmental and Urological\u2010Reproductive Medicine, Faculty of Medicine University of Miyazaki  Miyazaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Sato","sequence":"additional","affiliation":[{"name":"Dialysis Division University of Miyazaki Hospital  Miyazaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shouichi","family":"Fujimoto","sequence":"additional","affiliation":[{"name":"Dialysis Division University of Miyazaki Hospital  Miyazaki Japan"},{"name":"Department of Haemovascular Medicine and Artificial Organs University of Miyazaki  Miyazaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Harita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo 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