Nature Communications (Feb 2016)

FAT1 mutations cause a glomerulotubular nephropathy

  • 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

DOI
https://doi.org/10.1038/ncomms10822
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 11

Abstract

Read online

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.