SW Thames Regional Genetics Service, St George's NHS Trust, London, UK.
Eur J Hum Genet. 2011 Mar;19(3):360-2. doi: 10.1038/ejhg.2010.218. Epub 2011 Jan 5.
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutations consistent with AS. We report here a patient who presented with clinical features partially consistent with both PWS and Beckwith-Wiedemann syndrome (BWS). Epimutations were found at both the AS/PWS and BWS loci, and additionally at the H19, PEG3, NESPAS and GNAS loci. This patient is therefore the first described case with a primary epimutation consistent with AS accompanied by hypomethylation of other imprinted loci.
天使综合征（AS）和普拉德-威利综合征（PWS）是由 15q13 染色体上印记基因簇的遗传和表观遗传突变引起的。虽然导致 PWS 和 AS 的印记突变在本质上是相反的，但值得注意的是，已经有少数患者报告具有 PWS 的临床特征，但表观遗传突变与 AS 一致。我们在此报告了一名患者，其临床表现部分符合 PWS 和贝克威思-威德曼综合征（BWS）。在 AS/PWS 和 BWS 基因座以及 H19、PEG3、NESPAS 和 GNAS 基因座均发现了表观遗传突变。因此，该患者是首例描述的主要表观遗传突变与 AS 一致，同时伴有其他印记基因座低甲基化的病例。
