Abstracts from the 51st European Society of Human Genetics Conference: Posters

Abstract

Introduction: The atypical chemokine receptor 3 (ACKR3) is highly expressed in vascularized structures including the placenta and umbilical cord. Aberrant expression of ACKR3/ligands resulting in dysregulation of trophoblast-endometrial interaction has been implicated in recurrent pregnancy loss, intrauterine growth restriction, preterm labor, and preeclampsia. Copy number variations (CNV's) overlapping with ACKR3 have been documented in patients with variable findings including neurodevelopmental defects (NDD's), and in 0.01% of the healthy population (DGV). No CNV's involving ACKR3 have been reported in pregnancy loss. Here we present our novel data from our retrospective chromosome microarray analysis (CMA) associating duplications of ACKR3 with spontaneous abortions (SAB's) and intrauterine fetal demise (IUFD). Materials and Methods: Retrospective CMA was performed from ~4,700 samples to identify CNV's overlapping with ACKR3 (aka CXCR7; 2q37.3), of which ~350 were products of conception (POC). Results: This study revealed 11 CNV's overlapping with ACKR3. Nine gains were detected from six SAB's and three IUFD (7 males, 2 females) ranging from small intervals (n = 4, 36.8-65.5 kb) to trisomy 2 (n = 4) and tetrasomy 2 (n = 1). These gains account for 0.19% of all CMA cases and 2.6% of all POC cases. A 610 kb gain and a 6.1 Mb loss were observed from blood samples of two patients with NDD's.