Nature Communications (Oct 2019)
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
- Marie F. Smeland,
- Conor McClenaghan,
- Helen I. Roessler,
- Sanne Savelberg,
- Geir Åsmund Myge Hansen,
- Helene Hjellnes,
- Kjell Arne Arntzen,
- Kai Ivar Müller,
- Andreas Rosenberger Dybesland,
- Theresa Harter,
- Monica Sala-Rabanal,
- Chris H. Emfinger,
- Yan Huang,
- Soma S. Singareddy,
- Jamie Gunn,
- David F. Wozniak,
- Attila Kovacs,
- Maarten Massink,
- Federico Tessadori,
- Sarah M. Kamel,
- Jeroen Bakkers,
- Maria S. Remedi,
- Marijke Van Ghelue,
- Colin G. Nichols,
- Gijs van Haaften
Affiliations
- Marie F. Smeland
- Department of Medical Genetics, University Hospital of North Norway
- Conor McClenaghan
- Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University
- Helen I. Roessler
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Sanne Savelberg
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Geir Åsmund Myge Hansen
- Department of Medical Genetics, University Hospital of North Norway
- Helene Hjellnes
- Department of Medical Genetics, University Hospital of North Norway
- Kjell Arne Arntzen
- Department of Neurology, University Hospital of North Norway
- Kai Ivar Müller
- Department of Neurology, University Hospital of North Norway
- Andreas Rosenberger Dybesland
- The National Neuromuscular Centre of Norway, University Hospital of North Norway
- Theresa Harter
- Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University
- Monica Sala-Rabanal
- Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University
- Chris H. Emfinger
- Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University
- Yan Huang
- Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University
- Soma S. Singareddy
- Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University
- Jamie Gunn
- Department of Psychiatry, Washington University School of Medicine
- David F. Wozniak
- Department of Psychiatry, Washington University School of Medicine
- Attila Kovacs
- Department of Medicine, Washington University School of Medicine
- Maarten Massink
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Federico Tessadori
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Sarah M. Kamel
- Hubrecht Institute-KNAW and UMC Utrecht
- Jeroen Bakkers
- Hubrecht Institute-KNAW and UMC Utrecht
- Maria S. Remedi
- Department of Medicine, Division of Endocrinology, Metabolism and Lipid Research, Washington University
- Marijke Van Ghelue
- Department of Medical Genetics, University Hospital of North Norway
- Colin G. Nichols
- Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University
- Gijs van Haaften
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- DOI
- https://doi.org/10.1038/s41467-019-12428-7
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 19
Abstract
ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and cardiac systolic dysfunction which is associated with loss of KATP channel function.
