Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing
- Author(s)
- Wentworth, JM; Lukic, V; Bahlo, M; Finlay, M; Nguyen, C; Morahan, G; Harrison, LC;
- Details
- Publication Year 2014-11,Volume 44,Issue #11,Page 1137-40
- Journal Title
- Intern Med J
- Publication Type
- Journal Article
- Abstract
- Exome sequencing is being increasingly used to identify disease-associated gene mutations. We used whole exome sequencing to determine the genetic basis of a syndrome of diabetes and renal disease affecting a mother and her son. We identified a mutation in the hepatocyte nuclear factor 1-b (HNF1B) gene that encoded a methionine to valine amino acid change (M160V) in the HNF1B protein. This leads us to the previously unappreciated diagnosis of maturity-onset diabetes of the young type 5 and provided a basis for genetic counselling of other family members.
- Publisher
- Wiley
- Research Division(s)
- Molecular Medicine; Bioinformatics
- PubMed ID
- 25367728
- Publisher's Version
- https://doi.org/10.1111/imj.12584
- NHMRC Grants
- NHMRC/1037321,
- Terms of Use/Rights Notice
- © 2014 The Authors; Internal Medicine Journal © 2014 Royal Australasian College of Physicians
Creation Date: 2014-11-14 01:51:47
Last Modified: 2016-01-12 03:16:02