Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection
Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection
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DOI：
10.1016/j.rbmo.2010.02.025
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发表时间：
2010-06-01
影响因子：
4
通讯作者：
Mowat, D.
中科院分区：
文献类型：
--
作者：
Chopra, M.;Amor, D. J.;Mowat, D.
几个母体基因座的表观遗传改变与使用辅助生殖技术受孕的儿童的印记疾病有关。迄今为止，在不育男性的精子中已经观察到了父系基因座的表型突变，但是在使用辅助生殖治疗受孕的婴儿中几乎没有父系表型突变的证据。这是一个报告的女婴与经典罗素银综合征（RSS）谁是设想使用卵胞浆内注射精子获得睾丸穿刺。甲基化研究显示父系来源的H19/IGF 2基因座的低甲基化。据目前所知，这是第二个辅助生殖治疗怀孕的患者与经典的RSS和这种表观基因型。这个病例提供了进一步的证据表明，影响父系等位基因的表位突变可能与辅助生殖治疗有关。(C)2010年，爱思唯尔有限公司出版的生殖保健有限公司。版权所有。
Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive technologies. To date, epimutations at paternal loci have been observed in the spermatozoa of infertile men, but there is little evidence of paternal epimutations in babies conceived using assisted reproductive treatment. This is a report of a female infant with classic Russell Silver Syndrome (RSS) who was conceived using intracytoplasmic injection of spermatozoa obtained from testicular aspiration. Methylation studies revealed hypomethylation of the paternally derived H19/IGF2 locus. As far as is known, this is the second assisted reproduction treatment-conceived patient with classic RSS and this epigenotype. This case provides further evidence that epimutations affecting paternal alleles might be associated with assisted reproductive treatment. (C) 2010, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.