Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.
Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.
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DOI：
10.1002/ajmg.a.36145
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发表时间：
2013-10
影响因子：
2
通讯作者：
Riccio, Andrea
中科院分区：
文献类型：
--
作者：
Cocchi, Guido;Marsico, Concetta;Cosentino, Anita;Spadoni, Chiara;Rocca, Alessandro;De Crescenzo, Agostina;Riccio, Andrea
银-拉塞尔综合征（SRS）是一种临床和遗传异质性综合征，其特征是严重的宫内和产后生长迟缓、面部畸形和身体不对称。导致该综合征的主要分子机制之一涉及染色体11p15的甲基化异常。在过去的几十年里，据报道，通过辅助生殖技术 (ART) 出生的儿童中印记障碍有所增加；然而，目前几乎没有证据表明 SRS 和 ART 之间存在联系。只有极少数患有 SRS 的婴儿通过 ART 出生并得到分子分析的支持。我们报告了一名通过胞浆内单精子注射 (ICSI) 受孕的双胞胎女孩，诊断患有 SRS。分子研究揭示了父系 H19/IGF2 印记控制区的低甲基化。她的双胞胎妹妹产前和产后生长正常，染色体 11p15 甲基化模式正常。这是第二例报道的使用 ART 怀上 H19/IGF2 低甲基化的 SRS 双胞胎婴儿病例；它提供了 ART 程序与 SRS 中观察到的甲基化缺陷之间可能存在关系的额外证据。鉴于 SRS 的临床异质性，以及 ART 受孕儿童多胎和早产的风险增加，该人群中可能有许多 SRS 病例仍未确诊。未来的研究应该调查 ART 和 SRS 之间可能的联系，以便更好地了解 ART 妊娠中表突变的原因，并帮助临床医生为接受 ART 的父母提供充分的建议，并评估对使用 ART 怀上的孩子进行长期随访的机会。 © 2013 Wiley 期刊公司。
Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin-girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2 Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART-conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long-term follow-up of children conceived using ART. © 2013 Wiley Periodicals, Inc.
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影响因子：
30.8
作者：
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通讯作者：
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DOI：
10.14310/horm.2002.1111040
发表时间：
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通讯作者：
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