hrp0092p1-140 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Methylation Status of X Inactivation-Escape Genes in Controls and Females with X Chromosome Rearrangements

Kawashima Sayaka , Matsubara Keiko , Toki Machiko , Kosaki Rika , Hasegawa Yukihiro , Fukami Maki , Kagami Masayo

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...

hrp0097p1-272 | Fat, Metabolism and Obesity | ESPE2023

Various clinical manifestations found in 3 cases with Progeria syndrome

Igarashi Mizuho , Ota Tomoko , Doi Hibiki , Kashima Takemoto , Kosaki Rika , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

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 ...