Maturity‐onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing. Issue 11 (November 2014)

• Record Type: Journal Article
• Authors: Wentworth, J. M.; Lukic, V.; Bahlo, M.; Finlay, M.; Nguyen, C.; Morahan, G.; Harrison, L. C.
• Is Part Of: Internal medicine journal. Volume 44:Issue 11(2014)
• Page Start: 1137
• Page End: 1140
• Publication Date: 2014-11
• Subjects: MODY5 -- HNF1B -- glomerulocystic kidney disease -- maturity‐onset diabetes of the young -- whole exome sequencing; Medicine -- Periodicals; 616
• DOI: 10.1111/imj.12584
• Languages: English
• ISSNs: 1444-0903

Abstract

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.