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Maturity‐onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing |
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| Authors: | J. M. Wentworth V. Lukic M. Bahlo M. Finlay C. Nguyen G. Morahan L. C. Harrison |
| Affiliation: | 1. Molecular Medicine Division, The Walter and Eliza Hall Institute of Medical Research, , Melbourne, Victoria;2. Department of Diabetes and Endocrinology, Royal Melbourne Hospital, , Melbourne, Victoria;3. Department of Medical Biology, The University of Melbourne, , Melbourne, Victoria;4. Department of Mathematics and Statistics, The University of Melbourne, , Melbourne, Victoria;5. Department of Anatomical Pathology, Royal Melbourne Hospital, , Melbourne, Victoria;6. Centre for Diabetes Research, The Western Australian Institute for Medical Research;7. Centre for Medical Research, University of Western Australia, , Perth, Western Australia, Australia |
| 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. |
| Keywords: | MODY5 HNF1B glomerulocystic kidney disease maturity‐onset diabetes of the young whole exome sequencing |