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
Affiliations
- Heon Yung Gee
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Carolin E. Sadowski
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Pardeep K. Aggarwal
- Department of Pediatrics, Yale University School of Medicine
- Jonathan D. Porath
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Toma A. Yakulov
- University Freiburg Medical Center
- Markus Schueler
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Svjetlana Lovric
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Shazia Ashraf
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Daniela A. Braun
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Jan Halbritter
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Humphrey Fang
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Rannar Airik
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- Virginia Vega-Warner
- Department of Pediatrics, University of Michigan
- Kyeong Jee Cho
- Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine
- Timothy A. Chan
- Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center
- Luc G. T. Morris
- Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center
- Charles ffrench-Constant
- MRC Centre for Regenerative Medicine, Multiple Sclerosis Society Centre for Translational Research, University of Edinburgh
- Nicholas Allen
- School of Biosciences, Cardiff University
- Helen McNeill
- Department of Molecular Genetics, Samuel Lunenfeld-Tanenbaum Research Institute, University of Toronto, Mount Sinai Hospital
- Rainer Büscher
- Department of Pediatrics II, University Hospital of Essen
- Henriette Kyrieleis
- Department of Pediatrics, Bethanien Hospital
- Michael Wallot
- Department of Pediatrics, Bethanien Hospital
- Ariana Gaspert
- Institute of Surgical Pathology, University Hospital Zurich
- Thomas Kistler
- Division of Nephrology, Kantonsspital Winterthur
- David V. Milford
- Department of Paediatric Nephrology, Birmingham Children’s Hospital
- Moin A. Saleem
- Children’s and Academic Renal Unit, University of Bristol
- Wee Teik Keng
- Department of Genetics, Hospital Kuala Lumpur
- Stephen I. Alexander
- Centre for Kidney Research, Children's Hospital at Westmead
- Rudolph P. Valentini
- Department of Pediatrics, Division of Pediatric Nephrology, Children’s Hospital of Michigan/Wayne State University
- Christoph Licht
- Division of Nephrology, The Hospital for Sick Children and University of Toronto
- Jun C. Teh
- Division of Nephrology, The Hospital for Sick Children and University of Toronto
- Radovan Bogdanovic
- Department of Nephrology, Institute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, University of Belgrade, Faculty of Medicine
- Ania Koziell
- Department of Experimental Immunobiology, Division of Transplantation Immunology & Mucosal Biology, King’s College London, Faculty of Life Sciences & Medicine
- Agnieszka Bierzynska
- Children’s and Academic Renal Unit, University of Bristol
- Neveen A. Soliman
- Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University
- Edgar A. Otto
- Department of Pediatrics, University of Michigan
- Richard P. Lifton
- Department of Genetics, Yale University School of Medicine
- Lawrence B. Holzman
- Renal-Electrolyte and Hypertension Division, Perelman School of Medicine, University of Pennsylvania
- Nicholas E. S. Sibinga
- Wilf Family Cardiovascular Research Institute and Department of Medicine/Cardiology, Albert Einstein College of Medicine
- Gerd Walz
- University Freiburg Medical Center
- Alda Tufro
- Department of Pediatrics, Yale University School of Medicine
- Friedhelm Hildebrandt
- Division of Nephrology, Boston Children's Hospital, Harvard Medical School
- DOI
- https://doi.org/10.1038/ncomms10822
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 11
Abstract
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.
