Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
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DOI：
10.1086/346031
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发表时间：
2003-01-01
影响因子：
9.8
通讯作者：
Feinberg, AP
中科院分区：
文献类型：
--
作者：
DeBaun, MR;Niemitz, EL;Feinberg, AP
最近的人类和动物数据表明，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。我们报告的第一个证据，据我们所知，ART是与人类过度生长综合征，即贝克-威德曼综合征（BWS）。在一项前瞻性研究中，ART的患病率为4.6%（3/65），而美国的背景率为0.8%。共有7名患有BWS的儿童在ART后出生，其中5名是在卵胞浆内精子注射后受孕的。对其中六名儿童的分子研究表明，六名儿童中有五名具有与BWS相关的特定表观遗传改变-四名在LIT 1，一名在LIT 1和H19。我们讨论了我们的发现，ART与人类过度生长，类似于反刍动物中报道的大后代综合征的影响。
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.