• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Molecular syndromology >Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
【24h】

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

机译：Stüve-Wiedemann综合征的长期幸存者中 LIFR 基因的基因内缺失

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a rare autosomal recessive bent-bone dysplasia, caused by loss-of-function mutations in the leukemia inhibitory factor receptor (LIFR) gene, which usually leads to early death. Only few patients with long-term survival have been described in the literature. We report on a 5-year-old boy from a consanguineous marriage with molecular analysis for the LIFR gene. Sanger and next-generation sequencing (NGS) of LIFR were performed. Copy number variation analysis with NGS showed a novel mutation as the cause for the syndrome: an intragenic homozygous deletion in LIFR, involving exons 15-20. Bridging PCR was carried out to confirm the intragenic deletion. This is the first description of a large deletion in LIFR, broadening the spectrum of mutations in SWS. Besides the reported allelic heterogeneity, further studies such as exome sequencing are required to identify a novel gene in order to confirm the locus heterogeneity in SWS.
机译：Stüve-Wiedemann综合征（SWS，OMIM 601559）是一种罕见的常染色体隐性隐性弯曲骨发育不良，由白血病抑制因子受体（LIFR）基因的功能丧失突变引起，通常会导致早期死亡。文献中仅描述了少数具有长期生存的患者。我们报告了一个近亲结婚的5岁男孩，并对其LIFR基因进行了分子分析。进行了LIFR的Sanger和下一代测序（NGS）。用NGS进行的拷贝数变异分析表明，该综合征是一种新的突变：LIFR中的一种基因内纯合缺失，涉及外显子15-20。进行桥接PCR以确认基因内缺失。这是对LIFR中大量缺失的首次描述，从而扩大了SWS中突变的范围。除了已报道的等位基因异质性，还需要进一步的研究（例如外显子组测序）来鉴定新基因，以确认SWS中的基因座异质性。

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