...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of genetics >A de novo truncating mutation in ASXL1 associated with segmental overgrowth
【24h】

A de novo truncating mutation in ASXL1 associated with segmental overgrowth

机译：ASXL1中的DE Novo截断突变与节段性过度生长相关

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 genes involved in chromatin remodelling have been implicated in broad phenotypes of congenital abnormalities and neurodevelopment. However, limited genotype-phenotype correlations are available for some of the rarest genetic disorders that affect chromatin regulation. We hereby describe a 12-year-old girl presented at birth with severe hypotonia, developmental delay, a mid-line capillary malformation and distinctive craniofacial features. During the natural history of her disease, the girl developed severe spasticity and drug-resistant seizures, leading to a diagnosis of Bohring-Opitz syndrome (BOS). We performed whole-exome sequencing (WES) and identified a de novo mutation in ASXL1 (c.2033dupG) which results in the introduction of a premature stop codon (p.R678fs*6). ASXL1 encodes a polycomb repressive complex protein implicated in chromatin regulation and de novo mutations are a known cause of BOS. Phenotypes with segmental craniofacial overgrowth associated to midline capillary malformations enlarge the clinical spectrum of BOS at onset and further expand the differential diagnosis in ASXL1 mutation carriers.
机译：参与染色质重塑的基因的突变涉及先天性异常和神经发育的广泛表型。然而，有限的基因型 - 表型相关性可用于影响染色质调控的一些最稀有的遗传疾病。我们在特此描述了一名12岁的女孩，患有严重的低壬酸，发育延迟，中线毛细血管畸形和独特的颅面特征。在她疾病的自然历史中，女孩发育严重的痉挛和抗药性癫痫发作，导致Bohring-Opitz综合征（BOS）的诊断。我们进行了全面的序列（WES）并鉴定了ASXL1（C.2033Dupg）中的DE Novo突变，这导致了引入过早的终止密码子（P.R678FS * 6）。 ASXL1编码含有在染色质调节中的多元抑制复合物蛋白，De Novo突变是博斯的已知原因。具有与中线毛细管畸形相关的节段性颅面过度生长的表型扩大了BOS的临床谱，进一步扩展了ASXL1突变载体的差异诊断。

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