Improving HNF1β mutation detection rates: can a weighted score of clinical and familial characteristics help?

Kidney Int. 2014 Nov;86(5):882-4. doi: 10.1038/ki.2014.245.

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.

Publication types

  • Comment

MeSH terms

  • DNA Mutational Analysis*
  • Decision Support Techniques*
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / genetics*
  • Mutation*
  • Patient Selection*

Substances

  • Hepatocyte Nuclear Factor 1-beta