Nature Communications (Oct 2017)
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
- Kashyap A. Patel,
- Jarno Kettunen,
- Markku Laakso,
- Alena Stančáková,
- Thomas W. Laver,
- Kevin Colclough,
- Matthew B. Johnson,
- Marc Abramowicz,
- Leif Groop,
- Päivi J. Miettinen,
- Maggie H. Shepherd,
- Sarah E. Flanagan,
- Sian Ellard,
- Nobuya Inagaki,
- Andrew T. Hattersley,
- Tiinamaija Tuomi,
- Miriam Cnop,
- Michael N. Weedon
Affiliations
- Kashyap A. Patel
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- Jarno Kettunen
- Department of Endocrinology, Abdominal Centre, Helsinki University Hospital
- Markku Laakso
- Department of Medicine, Kuopio University Hospital
- Alena Stančáková
- Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland
- Thomas W. Laver
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- Kevin Colclough
- Department of Molecular Genetics, Royal Devon and Exeter National Health Service Foundation Trust
- Matthew B. Johnson
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- Marc Abramowicz
- IRIBHM, Genetics Department, Erasmus Hospital, Université Libre de Bruxelles
- Leif Groop
- Lund University Diabetes Centre, Department of Clinical Sciences Malmö, Lund University, Skåne University Hospital
- Päivi J. Miettinen
- Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital
- Maggie H. Shepherd
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- Sarah E. Flanagan
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- Sian Ellard
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- Nobuya Inagaki
- Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University
- Andrew T. Hattersley
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- Tiinamaija Tuomi
- Department of Endocrinology, Abdominal Centre, Helsinki University Hospital
- Miriam Cnop
- ULB Center for Diabetes Research, Faculty of Medicine, Université Libre de Bruxelles
- Michael N. Weedon
- Institute of Biomedical and Clinical Science, University of Exeter Medical School
- DOI
- https://doi.org/10.1038/s41467-017-00895-9
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 8
Abstract
Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating variants cause reduced penetrance MODY.
