Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Abstract

The identification of 20 putative maternal effect variants in 38 families affected by multilocus imprinting disorders adds to the evidence that maternal genetic factors affect oocyte fitness and thus offspring development. Testing for maternal-effect genetic variants should be considered in families affected by atypical imprinting disorders.