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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

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2191-0251
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Volume 30, Issue 1

Issues

Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population

Ho Ming Luk
  • Corresponding author
  • Clinical Genetic Service, Department of Health, 3/F Cheung Sha Wan Jockey Club Clinic, 2 Kwong Lee Road, Shamshuipo, Kowloon, Hong Kong SAR, P.R. China
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Published Online: 2016-12-15 | DOI: https://doi.org/10.1515/jpem-2016-0094

Abstract

Background:

The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) patients.

Methods:

A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and September 2015.

Results:

It was observed that 48.1% of the BWS cases were caused by loss of methylation at differentially methylated region 2 (DMR2-LoM) of the 11p15.5 region, 11.1% by gain of methylation at differentially methylated region 1 (DMR1-GoM) of the 11p15.5 region, 33.3% by paternal uniparental disomy 11 [upd (11)pat] and 7.5% by CDKN1C mutation. Two out of 27 (7.4%) had embryonal tumors. Both belonged to the DMR1-GoM subtype with one Wilm’s tumor diagnosed at 3 months of age and the other, hepatoblastoma, diagnosed at 6 months of age. However, no genotype-phenotype correlation can be concluded by this cohort study. Finally, for different clinical diagnostic criteria, the Debaun and Tucker criteria and the Ibrahim et al. weighing score system have the best performance for predicting a positive molecular test in our Chinese BWS cohort.

Conclusions:

It is the largest study of molecularly confirmed BWS in the Chinese. Their clinical and epigenetic features are comparable with other ethnic populations.

Keywords: Beckwith-Wiedemann syndrome; Chinese; epigenotype-phenotype characteristics

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About the article

Corresponding author: Dr. Ho Ming Luk, Clinical Genetic Service, Department of Health, 3/F Cheung Sha Wan Jockey Club Clinic, 2 Kwong Lee Road, Shamshuipo, Kowloon, Hong Kong SAR, P.R. China, Phone: +852 27253773, Fax: +852 27291440


Received: 2016-03-11

Accepted: 2016-10-05

Published Online: 2016-12-15

Published in Print: 2017-01-01


Author contributions: The author has accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis and interpretation of data; in the writing of the report or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 1, Pages 89–95, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0094.

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