Article
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
Journal of the American Society of Nephrology : JASN - 1 Jul 2013
Boyer Olivia, Woerner Stéphanie, Yang Fan, Oakeley Edward J, Linghu Bolan, Gribouval Olivier, Tête Marie-Josèphe, Duca José S, Klickstein Lloyd, Damask Amy J, Szustakowski Joseph D, Heibel Françoise, Matignon Marie, Baudouin Véronique, Chantrel François, Champigneulle Jacqueline, Martin Laurent, Nitschké Patrick, Gubler Marie-Claire, Johnson Keith J, Chibout Salah-Dine, Antignac Corinne
Abstract excerpt
LMX1B encodes a homeodomain-containing transcription factor that is essential during development. Mutations in LMX1B cause nail-patella syndrome, characterized by dysplasia of the patellae, nails, and elbows and FSGS with specific ultrastructural lesions of the glomerular basement membrane (GBM). By linkage analysis and exome sequencing, we unexpectedly identified an LMX1B mutation segregating with disease in a...
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