Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome
Journal
Journal of Pediatric Genetics
ISSN
2146-4596
2146-460X
Date Issued
2019
Author(s)
Abraham Urzua
Sofia Burattini
Constanza Pinochet
Type
Resource Types::text::journal::journal article
DOI
URL
Abstract
<jats:title>Abstract</jats:title><jats:p>Beckwith–Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and CDKN1C sequencing. We present a newborn with placentomegaly, hyperinsulinism and adrenal cytomegaly, but no typical external features of BWS. The patient had normal genetic studies in blood. However, adrenal and liver tissues showed hypermethylation of IC1 and hypomethylation of IC2. Microsatellite analysis confirmed mosaic paternal uniparental disomy. This study demonstrates the importance of analyzing additional tissues to reduce underdiagnosis of somatic mosaicism in BWS.</jats:p>
Project(s)