Open AccessImproved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Author(s) -
Samuel White Baker,
Kelly A. Duffy,
Jennifer RichardsYutz,
Matthew A. Deardorff,
Jennifer M. Kalish,
Arupa Ganguly
Publication year - 2020
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2019-106498
Subject(s) - beckwith–wiedemann syndrome , sanger sequencing , biology , genetics , genetic testing , epigenetics , disease , genomic imprinting , molecular marker , dna methylation , molecular genetics , pathology , dna sequencing , medicine , gene , gene expression
Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the majority are caused by methylation defects in imprinting control regions on chromosome 11p15.5. Disease-causing methylation defects are often mosaic within affected individuals. Phenotypic variability among individuals with chromosome 11p15.5 defects and tissue mosaicism led to the definition of the Beckwith-Wiedemann Spectrum (BWSp). Molecular diagnosis of BWSp requires use of multiple sensitive diagnostic techniques to reliably detect low-level aberrations.