COPY NUMBER VARIATION IN MODY DIABETES - FAMILIAL CASE PRESENTATION

Abstract

MODY (Maturity-Onset Diabetes of the Young) is an autosomal dominant form of diabetes that usually have onset in adolecence. This type of diabetes is caused by defects in the primary insulin secretion. Different types of MODY which are monogenic diseases result from mutations in a single gene. The most common types of MODY are MODY 2 and MODY 3 (with mutations in GCK and HNF1A genes, respectively). In our study we identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.