ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
Masayo KagamiKaori Hara-IsonoKeiko MatsubaraKazuhiko NakabayashiSatoshi NarumiMaki FukamiYumiko OhkuboHirotomo SaitsuShuji TakadaTsutomu OgataPublished in: Clinical epigenetics (2021)
We identified a ZNF445 pathogenic variant for the first time. Since ZNF445 binds to the MEG3/DLK1:IG-DMR and other iDMRs affected in this patient, the development of Temple syndrome and MLID would primarily be explained by the ZNF445 variant. Furthermore, CG-A may be the target site for ZNF445 within the MEG3/DLK1:IG-DMR.