hrp0092p1-32 | Diabetes and Insulin | ESPE2019

Heterozygous RFX6 Mutation as a Cause of Diabetes Mellitus in a Multigenerational Family

Zuckerman Levin Nehama , Paperna Tamar , Hershkovitz Tova , Mory Adi , Kurolap Alina , Mahameed Jamal , Feldman Hagit Baris , Shehadeh Naim

Background: Monogenic diabetes mellitus (DM) is an early-onset, non- autoimmune diabetes. Genetic diagnosis can personalize patient management and lead to prevention. We describe four generations of DM in one family, caused by a heterozygous mutation in the RFX6 gene. RFX6 (Regulatory factor X, 6) is essential for the development of the endocrine pancreas. Mutations in RFX6 can cause neonatal (Mitchell-Riley syndrome) as well as childhood DM,...