A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report
作者: Hu TanXianda WeiPu YangYanru HuangHaoxian LiDesheng LiangLingqian Wu
作者单位: 1Central South University
2Hunan Jiahui Genetics Hospital
刊名: Familial Cancer, 2017, Vol.16 (3), pp.417-422
来源数据库: Springer Journal
DOI: 10.1007/s10689-016-9963-8
关键词: Peutz-Jeghers syndromeLKB1VariantPathogenicityGenetic counseling
英文摘要: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased risk of various malignancies. Pathogenic variants in the LKB1 tumor suppressor gene (also known as STK11 ) are the major cause of PJS. In this study, compound heterozygous variants of LKB1 , c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively. Although all these three variants had been related to the autosomal dominant PJS in previous studies, all evidences collected in this study including de novo data, segregation data, population data, in-silico data, and functional data indicated that del(exon1) and c.890G > A are pathogenic in these two PJS...
原始语种摘要: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased risk of various malignancies. Pathogenic variants in the LKB1 tumor suppressor gene (also known as STK11 ) are the major cause of PJS. In this study, compound heterozygous variants of LKB1 , c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively. Although all these three variants had been related to the autosomal dominant PJS in previous studies, all evidences collected in this study including de novo data, segregation data, population data, in-silico data, and functional data indicated that del(exon1) and c.890G > A are pathogenic in these two PJS...
全文获取路径: Springer  (合作)
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影响因子:1.935 (2012)

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关键词翻译
关键词翻译
  • pathogenic 病原的
  • genetic 遗传的
  • functional 功能的
  • known 己知
  • mucocutaneous 黏膜与皮肤的
  • variant 变体
  • reported 报告的
  • disorder 无序
  • finding 搜索寻线
  • dominant 优势的