FAT1 mutations cause a glomerulotubular nephropathy

FAT1 mutations cause a glomerulotubular nephropathy

Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish evidence that FAT1 is required for normal glomerul...

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Autores principales: Heon Yung Gee, Carolin E. Sadowski, Pardeep K. Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G. T. Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun C. Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2016
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Science
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Acceso en línea:https://doaj.org/article/28d36207928640028a9a892d5c32fd4f
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Sumario:Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish evidence that FAT1 is required for normal glomerular and tubular function and that FAT1 mutations can cause SRNS.

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