Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

ABSTRACT:

Background

Imprinting disorders are a group of congenital diseases which are characterized by molecular alterations affecting differentially methylated regions (DMRs). To date, at least twelve imprinting disorders have been defined with overlapping but variable clinical features including growth and metabolic disturbances, cognitive dysfunction, abdominal wall defects and asymmetry. In general, a single specific DMR is affected in an individual with a given imprinting disorder, but there are a growing number of reports on individuals with so-called multilocus imprinting disturbances (MLID), where aberrant imprinting marks (most commonly loss of methylation) occur at multiple DMRs. However, as the literature is fragmented, we reviewed the molecular and clinical data of 55 previously

SUBMITTER: Eggermann T 

PROVIDER: S-EPMC8928698 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature