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

Intern Med J. 2014 Nov;44(11):1137-40. doi: 10.1111/imj.12584.

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: HNF1B; MODY5; glomerulocystic kidney disease; maturity-onset diabetes of the young; whole exome sequencing.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Central Nervous System Diseases / diagnosis*
  • Central Nervous System Diseases / genetics*
  • Dental Enamel / abnormalities*
  • Diabetes Mellitus, Type 2 / diagnosis*
  • Diabetes Mellitus, Type 2 / genetics*
  • Exome / genetics*
  • Female
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Sequence Analysis, Protein

Substances

  • HNF1B protein, human
  • Hepatocyte Nuclear Factor 1-beta

Supplementary concepts

  • Renal cysts and diabetes syndrome