Luk Ho Ming
J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):89-95. doi: 10.1515/jpem-2016-0094.
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.
A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and September 2015.
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.
It is the largest study of molecularly confirmed BWS in the Chinese. Their clinical and epigenetic features are comparable with other ethnic populations.
本研究的目的是探讨中国贝克威思-维德曼综合征（BWS）患者的临床和分子特征、基因型-表型相关性以及不同诊断标准对预测分子检测阳性结果的有效性。
在香港进行了一项回顾性三级广泛研究，纳入了2010年1月至2015年9月期间27例经分子确诊的BWS患者。
观察到，48.1%的BWS病例是由11p15.5区域的差异甲基化区域2（DMR2-LoM）甲基化缺失引起的，11.1%是由11p15.5区域的差异甲基化区域1（DMR1-GoM）甲基化增加引起的，33.3%是由父源单亲二体11 [upd(11)pat]引起的，7.5%是由CDKN1C突变引起的。27例中有2例（7.4%）患有胚胎性肿瘤。两者均属于DMR1-GoM亚型，其中1例在3个月大时被诊断为肾母细胞瘤，另1例在6个月大时被诊断为肝母细胞瘤。然而，该队列研究无法得出基因型-表型相关性结论。最后，对于不同的临床诊断标准，德鲍恩和塔克标准以及易卜拉欣等人的加权评分系统在预测我们中国BWS队列中的分子检测阳性结果方面表现最佳。
这是对中国分子确诊BWS患者规模最大的研究。他们的临床和表观遗传特征与其他种族人群相当。
