Diagnosis and Management of Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It is associated with genetic and epigenetic cha...

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Published inFrontiers in pediatrics Vol. 7; p. 562
Main Authors Wang, Kathleen H, Kupa, Jonida, Duffy, Kelly A, Kalish, Jennifer M
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 21.01.2020
Subjects
Beckwith-Wiedemann syndrome
cancer predisposition
diagnostic testing
methylation
mosaicism
Pediatrics
tumor screening
Beckwith-Wiedemann syndrome
tumor screening
cancer predisposition
diagnostic testing
methylation
mosaicism
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Summary:Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It is associated with genetic and epigenetic changes on the chromosome 11p15 region, which includes two imprinting control regions. Here we review strategies for diagnosing and managing BWS and delineate commonly used genetic tests to establish a molecular diagnosis of BWS. Recommended first-line testing assesses DNA methylation and copy number variation of the BWS region. Tissue mosaicism can occur in patients with BWS, posing a challenge for genetic testing, and a negative test result does not exclude a diagnosis of BWS. Further testing should analyze additional tissue samples or employ techniques with higher diagnostic yield. Identifying the BWS molecular subtype is valuable for coordinating patient care because of the (epi)genotype-phenotype correlations, including different risks and types of embryonal tumors.
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Edited by: Jessica Duis, Vanderbilt University Medical Center, United States
Reviewed by: Scott V. Dindot, Texas A&M University, United States; Silvia Russo, Italian Auxological Institute (IRCCS), Italy
This article was submitted to Genetic Disorders, a section of the journal Frontiers in Pediatrics
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2019.00562