Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing

J. M. Wentworth, Vesna Lukic, M. Bahlo, M. Finlay, C. Nguyen, Grant Morahan, L C Harrison

Research output: Contribution to journalArticleOtherpeer-review

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1137-1140
Number of pages4
JournalInternal Medicine Journal
Volume44
Issue number11
DOIs
Publication statusPublished - 1 Nov 2014
Externally publishedYes

Keywords

  • Glomerulocystic kidney disease
  • HNF1B
  • Maturity-onset diabetes of the young
  • MODY5
  • Whole exome sequencing

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