title: Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing.
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.
authors.affiliation: Molecular Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria; Department of Diabetes and Endocrinology, Royal Melbourne Hospital, Melbourne, Victoria; Department of Medical Biology, The University of Melbourne, Melbourne, Victoria.
authors.forename: J M
authors.initials: JM
authors.lastname: Wentworth
authors.forename: V
authors.initials: V
authors.lastname: Lukic
authors.forename: M
authors.initials: M
authors.lastname: Bahlo
authors.forename: M
authors.initials: M
authors.lastname: Finlay
authors.forename: C
authors.initials: C
authors.lastname: Nguyen
authors.forename: G
authors.initials: G
authors.lastname: Morahan
authors.forename: L C
authors.initials: LC
authors.lastname: Harrison
mesh_terms: D000293:Adolescent; D002493:Central Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics*; D003743:Dental Enamel / Q000002:abnormalities*; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis* / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D020539:Sequence Analysis, Protein
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta
keywords: HNF1B; MODY5; glomerulocystic kidney disease; maturity-onset diabetes of the young; whole exome sequencing