A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

ABSTRACT:

Background/objectives

Patients referred for HNF1B testing present very heterogeneous phenotypes. Despite suggestive characteristics, many do not harbor mutations in HNF1B. Our objective was to evaluate the clinical characteristics of probands referred for HNF1B genetic testing through a nationwide monogenic diabetes screening program.

Methods

Probands tested for HNF1B mutations in the 2005-2018 period (N = 50) were identified in the Polish Monogenic Diabetes Registry, which prospectively recruits primarily pediatric patients and their families on a nationwide scale. Variants that had been reported pathogenic were reassessed using criteria of the American College of Medical Genetics and Genomics (ACMG). A structured medical interview was performed with all available individua

SUBMITTER: Sztromwasser P 

PROVIDER: S-EPMC7217165 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature