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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| Veröffentlicht in: | American journal of medical genetics. Part A 2019-04, Vol.179 (4), p.525-533 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Duffy, Kelly A. Sajorda, Brian J. Yu, Alice C. Hathaway, Evan R. Grand, Katheryn L. Deardorff, Matthew A. Kalish, Jennifer M. |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.61053 |
| format | Article |
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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.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.61053</identifier><identifier>PMID: 30719840</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>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</subject><ispartof>American journal of medical genetics. 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| 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 |
| title | Beckwith–Wiedemann syndrome in diverse populations |
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