ESPE Abstracts

Context: X chromosome inactivation (XCI) is a process in which one of the two X chromosomes in a female is randomly inactivated in order to correct gene dosage between males and females. However, about 15% of genes escape from XCI (termed escapees), and 10% of genes are variably inactivated (variable genes). The mechanism of inactivation and escape remains to be revealed. The promoter regions of escapees are hypomethylated compared to those of the inac...

Background: Progeria syndromes caused by LMNA gene variants consist of Hutchinson-Gilford progeria syndrome (HGPS) and Atypical progeroid syndrome (APS). Various phenotypes of APS are previously reported, whereas HGPS shows relatively unique phenotype.Objective: To investigate the spectrum of clinical manifestations in three cases of Progeria syndrome.Methods: The history ...

Background: Beckwith-Wiedemann syndrome (BWS) is a representative imprinting disorder with characteristic clinical features such as overgrowth, macroglossia, and abdominal wall defects. The BWS-responsible imprinted region is on chromosome 11p15.5. The CpGs within the H19/IGF2:IG-differentially methylated region (H19 -DMR) at the 11p15.5 imprinted region are maternally unmethylated and paternally methylated, and the H19- DMR function...