• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of genetics >Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta
【24h】

Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta

机译：Col1a1和Serpinf1在高危妊娠中的杂合酶突变的共同发生，骨质骨质妊娠不完全

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Mutations in several genes, including SERPRINF1 and COL1A1, have been associated with the development of osteogenesis imperfecta (OI). Here, we reported the co-occurrence of a rare heterozygous variant (c.167C>G p.Ala56Gly) in SERPRINF1 and a novel heterozygous mutation (c.1634G>A p.Gly545Asp) in COL1A1 in a foetus with a severe form of OI. Bioinformatics modelling revealed that the effect of the mutation on SPERINF1 is neutral. In contrast, the mutation in COL1A1 is deleterious. It is predicted to cause distortion of the α (1) chain of the type I collagen and results in structural instability of the protein. Therefore, a novel dominant variant of COL1A1 likely underlies the severe foetal pathology observed, although we do not exclude the possibility that the heterozygous mutations in SERPINF and COL1A1 may interact and co-ordinately cause pathogenesis. This novel COL1A1 mutation is recommended to be included in the diagnostic panels for OI.
机译：几种基因中的突变包括Serprinf1和Col1a1，已与骨质发生不完全（OI）的发育有关。 在这里，我们报道了在胎儿的胎儿中的稀有杂合变体（C.167C> G p.Ala56Ly）的罕见杂合变体（C.167C> G p.Ala56Ly）的共同发生 oi。 生物信息学建模显示，突变对Sperinf1的影响是中性的。 相反，Col1a1中的突变是有害的。 预计α（1）链α（1）链的变形是蛋白质的结构不稳定性。 因此，Col1A1的新型优势变体可能是所观察到的严重胎儿病理学，尽管我们不排除SerpinF和COL1A1中的杂合突变可能相互作用和共同地引起发病机制。 建议将该新型COL1A1突变包含在OI的诊断面板中。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号