title: Improving HNF1β mutation detection rates: can a weighted score of clinical and familial characteristics help?
abstract: Maturity-onset diabetes of the young type 5 (MODY5) presents with incomplete penetrance and phenotypic heterogeneity, often resulting in misdiagnosis with other renal disorders. Hence, HNF1β mutation detection rates in MODY5-like patients are low (∼15%) and standards for mutation analysis are lacking. Faguer et al. established a composite score evaluating the most frequent and specific features of MODY5. Further, they tested an algorithm that provides a rational for genetic testing and improves HNF1β mutation detection rates.
authors.affiliation: Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Katharina
authors.initials: K
authors.lastname: Hopp
mesh_terms: D004252:DNA Mutational Analysis; D003661:Decision Support Techniques; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D018579:Patient Selection
chemical_list: D051539:Hepatocyte Nuclear Factor 1-beta