Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann SyndromeFunding This study was funded by the Fondecyt-Chile 1171014; Child Health Foundation, Birmingham, AL, USA, and Rare Diseases Program at ICIM, Clínica Alemana Universidad del Desarrollo, Chile. The funding organizations played no role in study design, in the collection, analysis, and interpretation of data, in the writing of the case report, or in the decision to submit the case report for publication.
25 January 2019
16 April 2019
11 June 2019 (online)
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.
KeywordsBeckwith–Wiedemann syndrome - hyperinsulinism - mosaicism - neonatal hypoglycemia - uniparental disomy
All the authors have accepted responsibility for the entire content of this manuscript and have approved submission.
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