IMPE Abstracts

Introduction: Overexpression of the imprinted locus at chromosome 6q24, in which PLAGL1 and HYMAI are located, causes transient neonatal diabetes mellitus (transient NDM, TNDM). Normally, expression of the maternal alleles of PLAGL1 and HYMAI is silenced by differentially methylated region (DMR) methylation. Although it is well known that duplication of 6q24 on the paternal allele causes TNDM (6q24-TNDM), phenotype of patern...