Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.
Am J Med Genet A. 2019 Apr;179(4):525-533. doi: 10.1002/ajmg.a.61053. Epub 2019 Feb 4.
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.
贝克威思-威德曼综合征（BWS）是最常见的表观遗传学过度生长障碍，患者表现出多种临床特征。尽管已经证明了 BWS 中的基因型-表型相关性，并且已经报道 BWS 在不同的种族和民族背景中同样发生，但迄今为止尚无研究评估不同背景下发现的频率。在这项研究中，我们评估了白种人、混合人和非白种人组中 BWS 患者的临床特征和分子诊断的发生率。这些结果表明，种族/民族群体之间的临床特征和分子诊断存在差异，并提出了 BWS 中基因型-表型相关性种族和民族影响的可能性。
