Table 1 Overview on the 12 known imprinting disorders and the ratio of MLID in specific molecular subgroups
Imprinting disorder (abbreviation) | OMIM | Chromosome | Primary epimutation (frequency)a | MLID frequency observed for the respective epimutationb |
|---|---|---|---|---|
Transient neonatal diabetes mellitus (TNDM) | 601410 | Chr 6q24 | PLAGL1:alt-TSS-DMR LOM (30%) | 30% |
Silver–Russell syndrome (SRS) | 180860 | Chr 11p15 | H19/IGF2:IG-DMR LOM (30–60%) | 7–10% |
Birk–Barel syndrome (BIBARS) | 612292 | Chr 8q24.3 | Epimutation not yet reported | – |
Beckwith–Wiedemann syndrome (BWS) | 130650 | Chr 11p15 | KCNQ1OT1:TSS-DMR LOM (50%) | 25% |
H19/IGF2:IG-DMR GOM (5–10%) | – | |||
Kagami–Ogata syndrome (KOS14) | 608149 | Chr 14q32 | MEG3/DLK1:IG-DMR GOM (15%) | – |
Temple syndrome (TS14) | 616222 | Chr 14q32 | MEG3/DLK1:IG-DMR LOM (18.8%) | Unclearc |
Prader–Willi syndrome (PWS) | 176270 | Chr 15q11–q13 | SNURF:TSS-DMR GOM (1%) | 1 case |
Angelman syndrome (AS) | 105830 | Chr 15q11–q13 | SNURF:TSS-DMR LOM (2–3%) | – |
Central precocious puberty 2 (CPPB2) | 615346 | Chr 15q11.2 | Epimutation not yet reported | – |
Schaaf–Yang syndrome (SYS) | 615547 | Chr 15q11.2 | Epimutation not yet reported | – |
Pseudohypoparathyroidism 1B (PHP1B) | 603233 | Chr 20q13 | Maternal GNAS DMRs LOM with paternal GNAS DMR GOM (42.5%) | 12.5% |
Mulchandani–Bhoj–Conlin syndrome (MBCS) | 617352 | Chr 20 | Epimutation not yet reported | – |