Nature Communications (Oct 2017)
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
- Peter Huppke,
- Susann Weissbach,
- Joseph A. Church,
- Rhonda Schnur,
- Martina Krusen,
- Steffi Dreha-Kulaczewski,
- W. Nikolaus Kühn-Velten,
- Annika Wolf,
- Brenda Huppke,
- Francisca Millan,
- Amber Begtrup,
- Fatima Almusafri,
- Holger Thiele,
- Janine Altmüller,
- Peter Nürnberg,
- Michael Müller,
- Jutta Gärtner
Affiliations
- Peter Huppke
- Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen
- Susann Weissbach
- Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen
- Joseph A. Church
- Divison of Clinical Immunology and Allergy, Childrens Hospital Los Angeles, and Keck School of Medicine University of Southern California
- Rhonda Schnur
- Division of Genetics, Cooper University Health Care, Cooper Medical School of Rowan University 3
- Martina Krusen
- Lebenszentrum Königsborn Fachklinik für Kinderneurologie und Sozialpädiatrie mit Sozialpädiatrischem Zentrum
- Steffi Dreha-Kulaczewski
- Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen
- W. Nikolaus Kühn-Velten
- Medical Laboratory Bremen
- Annika Wolf
- Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen
- Brenda Huppke
- Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen
- Francisca Millan
- GeneDx
- Amber Begtrup
- GeneDx
- Fatima Almusafri
- Department of Pediatrics, Clinical and Metabolic Genetics, Hamad Medical Corporation
- Holger Thiele
- Cologne Center for Genomics (CCG), University of Cologne
- Janine Altmüller
- Cologne Center for Genomics (CCG), University of Cologne
- Peter Nürnberg
- Cologne Center for Genomics (CCG), University of Cologne
- Michael Müller
- Center for Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB)
- Jutta Gärtner
- Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen
- DOI
- https://doi.org/10.1038/s41467-017-00932-7
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 10
Abstract
The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.
