title: Mody-3: novel HNF1A mutation and the utility of glucagon-like peptide (GLP)-1 receptor agonist therapy.
abstract: OBJECTIVE
  An estimated 1 to 2% of cases of diabetes mellitus have a monogenic basis; however, delayed diagnosis and misdiagnosis as type 1 and 2 diabetes are common. Correctly identifying the molecular basis of an individual's diabetes may significantly alter the management approach to both the patient and his or her relatives. We describe a case of mature onset diabetes of the young (MODY) with sufficient evidence to support the classification of a novel HNF1A (hepatocyte nuclear factor-1-α) mutation as a cause of MODY-3.
  
  
  METHODS
  A 21-year-old Caucasian female presented to our office with a diagnosis of noninsulin-dependent diabetes mellitus (NIDDM) at age 10; glycemia was initially managed with oral antidiabetic (OAD) agents and insulin detemir. The patient reported a strong family history of early-onset NIDDM in both her mother and maternal grandmother, both of whom eventually required insulin therapy to control glycemia. The patient's medical and family history were highly suggestive of maturity-onset diabetes of the young (MODY), and genetic testing was performed.
  
  
  RESULTS
  Genetic screening detected a mutation p. Arg200Trp in the HNF1A gene in the patient, her mother, and maternal grandmother, suggesting a diagnosis of MODY-3. This finding resulted in a change of antidiabetic therapy in all 3 patients, including the addition of once-daily liraglutide therapy, which helped improve their glycemic control.
  
  
  CONCLUSIONS
  Our case report supports the classification of the p. Arg200Trp mutation as a cause of MODY-3. The findings also suggest that glucagon-like peptide-1 (GLP-1) receptor agonist therapy may be of value in managing glycemia in patients with MODY-3.
authors.affiliation: Summa Health System, Akron, Ohio.
authors.forename: Maricor K
authors.initials: MK
authors.lastname: Docena
authors.affiliation: Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, Ohio.
authors.forename: Charles
authors.initials: C
authors.lastname: Faiman
authors.affiliation: Courtagen Life Sciences Inc., Woburn, Massachusetts.
authors.forename: Christine M
authors.initials: CM
authors.lastname: Stanley
authors.affiliation: Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, Ohio.
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Pantalone
mesh_terms: D000328:Adult; D003924:Diabetes Mellitus, Type 2 / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D009154:Mutation; D000097789:Glucagon-Like Peptide-1 Receptor Agonists
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D000097789:Glucagon-Like Peptide-1 Receptor Agonists