DeBaun Michael R, Niemitz Emily L, Feinberg Andrew P
Division of Pediatric Hematology-Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
Am J Hum Genet. 2003 Jan;72(1):156-60. doi: 10.1086/346031. Epub 2002 Nov 18.
Recent data in humans and animals suggest that assisted reproductive technology (ART) might affect the epigenetics of early embryogenesis and might cause birth defects. We report the first evidence, to our knowledge, that ART is associated with a human overgrowth syndrome-namely, Beckwith-Wiedemann syndrome (BWS). In a prospective study, the prevalence of ART was 4.6% (3 of 65), versus the background rate of 0.8% in the United States. A total of seven children with BWS were born after ART-five of whom were conceived after intracytoplasmic sperm injection. Molecular studies of six of the children indicate that five of the six have specific epigenetic alterations associated with BWS-four at LIT1 and one at both LIT1 and H19. We discuss the implications of our finding that ART is associated with human overgrowth, similar to the large offspring syndrome reported in ruminants.
近期针对人类和动物的研究数据表明，辅助生殖技术（ART）可能会影响早期胚胎发育的表观遗传学，并可能导致出生缺陷。据我们所知，我们首次报告了ART与一种人类过度生长综合征——即贝克威思-维德曼综合征（BWS）相关的证据。在一项前瞻性研究中，ART的发生率为4.6%（65例中有3例），而美国的背景发生率为0.8%。共有7名患有BWS的儿童通过ART出生，其中5名是在卵胞浆内单精子注射后受孕的。对其中6名儿童的分子研究表明，6名儿童中有5名具有与BWS相关的特定表观遗传改变，其中4名在LIT1，1名在LIT1和H19均有改变。我们讨论了我们的发现所带来的影响，即ART与人类过度生长相关，这类似于反刍动物中报道的大后代综合征。
