Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.

ABSTRACT: The term multilocus imprinting disturbance (MLID) describes the aberrant methylation of multiple imprinted loci in the genome, and MLID occurs in patients suffering from imprinting disorder carrying methylation defects. First data indicate that functional variants in factors expressed from both the fetal as well as the maternal genome cause MLID. Molecular changes in such genes of the maternal genome are called maternal effect variants, they affect members of the subcortical maternal complex (SCMC) in the oocyte which plays an important role during early embryonic development. Whereas the contribution of variants in the SCMC genes NLRP2, NLRP5, NLRP7, and KHDC3L to the etiology of reproductive failure and aberrant imprinting is widely accepted, the involvement of PADI6 variants in the form

SUBMITTER: Eggermann T 

PROVIDER: S-EPMC8115525 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature