Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial Insulinomatosis

Abstract excerpt

Adult-onset familial insulinomatosis is a rare disorder with recurrent, severe hypoglycemia caused by multiple insulin-secreting pancreatic tumors. The etiology was unclear until the variant p.Ser64Phe in the transcription factor MAFA, a key coordinator of β-cell insulin secretion, was defined as the cause in two families. We here describe detailed genetic, clinical, and family analyses of two sisters with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Metabolism, Diabetes, and Cancer
• Share to Neuroendocrine Tumor Research Advances
• Share to Pancreatic function and diabetes