Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096pl11 | Genomic imprinting and its clinical relevance | IMPE2023

Genomic imprinting and its clinical relevance: lesson from Kagami-Ogata syndrome and Temple syndrome

Ogata Tsutomu , Kagami Masayo , DiMarco Aimee , Palazzo Fausto , Wernig Florian

[Introduction] Genomic imprinting refers to the process by which a single allele is expressed in a parent-of-origin dependent manner. This parent-of-origin dependent expression is regulated by methylation patterns of differentially methylated region (DMRs). Here, we focus on two imprinting disorders, Kagami-Ogata syndrome (KOS14) and Temple syndrome (TS14). [Chromosome 14q32.2 imprinted region] This region harbors paternally expressed protein-coding genes such as DLK1 and RTL1...