Pregnancy outcome with maternal HNF1B gene mutations and 17q12 deletions

Abstract

There is an increasing body of literature regarding monogenic diabetes, particularly the more common forms of glucokinase and HNF1-alpha mutations (MODY2 and MODY3). There is relatively little published literature regarding rarer mutations. HNF1-beta mutations and 17q12 deletions may be associated with a broad range of organ dysfunction, renal disease and diabetes in particular resulting in high-risk pregnancies. This manuscript describes pregnancy outcomes in a woman with an HNF1-beta mutation and 2 women with an HNF1B/17q12 deletion and reviews the previously published literature. It highlights the significant rate of adverse maternal and fetal outcomes, and the maternal features suggestive of the diagnosis which should be considered in preconception counselling.

Keywords: 17q12 deletion; MODY5; Maturity-onset diabetes of the young.