Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
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DOI: 10.1186/s13148-022-01262-2
Abstract: Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1 :TSS DMR (11p15.5) show MLID (Multilocus Imprinting Disturbance) upon epimutations… read more here.
Keywords: subcortical maternal; imprinting disturbance; maternal complex; beckwith wiedemann ... See more keywords
Variants of NLRP genes encoding subcortical maternal complex components are linked to biparental placental mesenchymal dysplasia
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DOI: 10.1186/s40246-025-00814-w
Abstract: Placental mesenchymal dysplasia (PMD) is a placental abnormality resembling partial hydatidiform moles without trophoblastic proliferation. Although many PMD cases involve androgenetic/biparental mosaicism or chimerism, we recently reported that approximately 30% of cases retain biparental genomes… read more here.
Keywords: maternal complex; subcortical maternal; methylation; aberrant methylation ... See more keywords