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. 2020 Apr 29;46(1):55.
doi: 10.1186/s13052-020-0819-3.

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

Ruixue Wang  1 , Yongmei Xiao  1 , Dan Li  1 , Hui Hu  1 , Xiaolu Li  1 , Ting Ge  1 , Ronghua Yu  1 , Yizhong Wang  2 , Ting Zhang  3
Affiliations

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

Ruixue Wang et al. Ital J Pediatr. .

Abstract

Background: Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects of BWS patients in China.

Methods: Thirty-one patients with clinical suspicion of BWS were retrospectively recruited to the study from Shanghai Children's Hospital between January 2014 and December 2017. Clinical data, including demographics, clinical features, and molecular testing results were extracted and systematically analyzed.

Results: Twenty-one patients with a BWS score ≥ 4 (6, IQR 4, 7) were clinically diagnosed with BWS, and 10 children with a BWS score ≥ 2 and < 4 (2, IQR 2, 3) were clinically suspected BWS patients. The most common cardinal feature of clinically diagnosed patients was macroglossia (71.4%) followed by lateralized overgrowth (33.3%) and exomphalos (14.3%), and the major suggestive features were umbilical hernia and/or diastasis recti (65.0%) and ear creases or pits (61.9%). Among 10 clinically suspected BWS patients, macroglossia and lateralized overgrowth were observed in 3 (30%) and 2 (20%) patients, and umbilical hernia and/or diastasis recti occurred in 7 (70.0%) patients. Seven (33.3%) clinically diagnosed patients and 3 (30%) suspected patients were identified with loss of methylation at KCNQ1OT1:TSS differentially methylated region (DMR; IC2 LOM), 5 (23.8%) clinically diagnosed BWS patients were identified with gain of methylation at H19/IGF2:IG-DMR (IC1 GOM), and 1 (4.8%) clinically diagnosed BWS patients was identified with paternal uniparental isodisomy 11 (pUPD11). The phenotype-genotype correlation analysis showed no significant difference among patients with IC2 LOM, IC1 GOM, and pUPD11.

Conclusions: The current study presents the first cohort study of BWS patients in mainland China. The clinical and molecular features of the patients are similar to those of other reported BWS patients in the Chinese population.

Keywords: Beckwith-Wiedemann syndrome; Chromosome 11p15.5; Imprinting center; Macroglossia; Methylation abnormality.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Representative cardinal and suggestive features of Beckwith-Wiedemann syndrome: a Macroglossia (patient No. 3); b, c Lateralized overgrowth (patient No. 7); d Umbilical hernia (patient No. 1); e Ear creases (patient No. 13); (f) Facial naevus simplex (patient No. 23). Written informed consent was obtained from the parents for the publication of these images
Fig. 2
Fig. 2
MS-MLPA test result of the patient (No. 19) had both gain of methylation at H19/IGF2:IG differentially methylated region (DMR; IC1 GOM) and loss of methylation at KCNQ1OT1:TSS-DMR (IC2 LOM) (a, b), and a healthy control (c, d)
See this image and copyright information in PMC

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