Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)
Volume 96 | IMPE2023

IMPE 2023

Buenos Aires, Argentina
04 Mar 2023 - 07 Mar 2023

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11th International Meeting of Pediatric Endocrinology (IMPE 2023). 4 -7 March 2023 - Buenos Aires, Argentina.

ICPE Plenary Lectures

Genomic imprinting and its clinical relevance

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...