Beygo Jasmin, Joksic Ivana, Strom Tim M, Lüdecke Hermann-Josef, Kolarova Julia, Siebert Reiner, Mikovic Zeljko, Horsthemke Bernhard, Buiting Karin
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Clinic of Gynecology and Obstetrics Narodni front, Belgrade, Serbia.
Eur J Hum Genet. 2016 Aug;24(9):1280-6. doi: 10.1038/ejhg.2016.3. Epub 2016 Feb 3.
Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth syndrome caused by different genetic or epigenetic alterations affecting imprinted regions on chromosome 11p15.5. Here we report a family with multiple offspring affected with BWS including giant omphalocoeles in which maternal transmission of a chromosomal rearrangement including an inversion and two deletions leads to hypomethylation of the imprint control region 2 (ICR2). As the deletion includes the promoter and 5' part of the KCNQ1 gene, we suggest that transcription of this gene may be involved in establishing the maternal methylation imprint of the ICR2, which is located in intron 10 of KCNQ1.
贝克威思-维德曼综合征（BWS；OMIM #130650）是一种过度生长综合征，由影响11号染色体p15.5印记区域的不同遗传或表观遗传改变引起。我们在此报告一个有多例后代患BWS的家族，包括巨大脐膨出，其中涉及一个倒位和两个缺失的染色体重排的母系传递导致印记控制区域2（ICR2）的低甲基化。由于该缺失包括KCNQ1基因的启动子和5'部分，我们认为该基因的转录可能参与建立位于KCNQ1基因第10内含子中的ICR2的母系甲基化印记。
