Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China.

ABSTRACT:

Background

Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic errors. This study aimed to analyze the relationship between the epigenetic errors and phenotypes of BWS and to evaluate the efficacy of diagnosing BWS using patients' clinical characteristics.

Methods

Patients clinically diagnosed with BWS were subjected to methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for (epi)genotyping. The patients' clinical characteristics were analyzed and compared using regression models. The diagnostic efficacy of previous criteria and scoring systems was compared using area under the receiving operating curve (ROC).

Results

The most common clinical features observed in BWS patients were macroglossia (83.2%), abdominal wall defects

SUBMITTER: Zhang M 

PROVIDER: S-EPMC7658761 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature