Beckwith–Wiedemann syndrome in diverse populations

Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype–phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethni...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2019-04, Vol.179 (4), p.525-533
Main Authors: Duffy, Kelly A., Sajorda, Brian J., Yu, Alice C., Hathaway, Evan R., Grand, Katheryn L., Deardorff, Matthew A., Kalish, Jennifer M.
Format: Article
Language:English
Subjects:
Beckwith-Wiedemann Syndrome - diagnosis
Beckwith-Wiedemann Syndrome - epidemiology
Beckwith‐Wiedemann syndrome
diverse populations
DNA Methylation
Epigenetics
Ethnic Groups - genetics
Ethnic Groups - statistics & numerical data
Ethnicity
Female
Genetic Association Studies
Genomic Imprinting
Genotypes
Humans
imprinting
Infant, Newborn
Male
methylation
Minority & ethnic groups
overgrowth
Pennsylvania - epidemiology
Phenotypes
race
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Summary:Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype–phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethnic backgrounds, no study to date has evaluated the frequency of findings in different backgrounds. In this study, we evaluated the incidence of clinical features and molecular diagnoses among patients with BWS in Caucasian, Mixed, and non‐Caucasian groups. These results suggest that clinical features and molecular diagnoses differ between race/ethnicity groups and raise the possibility of race and ethnicity effects on genotype–phenotype correlations in BWS.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61053