Skip to main content

Table 1 The numbers of the patients with eight representative epi-IDs and affected DMRs

From: Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

epi-IDs

Affected DMRs

n

Silver-Russell syndrome

H19/IGF2:IG-DMR hypomethylation

77

Beckwith-Wiedemann syndrome

H19/IGF2:IG-DMR hypermethylation

9

KCNQ1OT1:TSS-DMR hypomethylation

22

Kagami-Ogata syndrome

MEG3/DLK1:IG-DMR and MEG3:TSS-DMR hypermethylation

5

Temple syndrome

MEG3/DLK1:IG-DMR and MEG3:TSS-DMR hypomethylation

4

Prader-Willi syndrome

SNURF:TSS-DMR hypermethylation

4

Angelman syndrome

SNURF:TSS-DMR hypomethylation

5

Pseudohypoparathyroidism 1B

GNAS A/B:TSS-DMR hypomethylation

8

Transient neonatal diabetes mellitus

PLAGL1:alt-TSS-DMR hypomethylation

2

Total

 

136

  1. epi-IDs epimutation-mediated imprinting disorders, DMRs differentially methylated regions