天津医药

天津医药 ›› 2018, Vol. 46 ›› Issue (9): 1027-1032.doi: 10.11958/20180697

• 综述 • 上一篇    

常染色体隐性遗传性皮肤松弛症的相关基因研究进展

石武娟，薛珊珊   

  1. 1天津市儿童医院新生儿科（邮编300134）；2天津市宝坻区人民医院儿科
  • 收稿日期:2018-05-02 修回日期:2018-06-20 出版日期:2018-09-15 发布日期:2018-10-10
  • 通讯作者: 薛珊珊 E-mail:xsssusan@126.com

Research progress in related gene of autosomal recessive cutis laxa

SHI Wu-Juan, XUE Shan-shan   

  1. 1 Tianjin Children’s Hospital, Tianjin 300134, China; 2 The Baodi District People’s Hospital of Tianjin
  • Received:2018-05-02 Revised:2018-06-20 Published:2018-09-15 Online:2018-10-10
  • Contact: Shan-Shan -Xue E-mail:xsssusan@126.com

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摘要： 常染色体隐性遗传性皮肤松弛症是遗传性皮肤松弛症的常见类型，其发病机制尚未完全明确，但其可能的致病基因功能及其下游信号通路逐渐成为当前的研究热点。对与皮肤松弛症相关的基因及相应的信号通路的深入研究不仅为明确其发病机制奠基了良好的基础，同时，也为指导优生优育咨询指明了方向。本文主要综述近年来与常染色体隐性遗传性皮肤松弛症发病相关的基因及其信号通路的最新研究进展。

关键词: 皮肤松弛症, 突变, 信号传导, 常染色体隐性遗传

Abstract: Autosomal recessive cutis laxa is a common type of hereditary cutis laxa. Its pathogenesis is not completely clear, but involved genes and their corresponding functions and signaling pathways have gradually become the research focus. According to the latest research, the related genes and their responding signaling pathways not only provide a solid foundation for the pathogenesis of cutis laxa, but also indicate a direction for instructing healthy pregnancy and scientific nurture. This paper aims to review the recent advances in pathogenic genes and potential signaling pathways in autosomal recessive cutis laxa.

Key words: cutis laxa, mutation, signal transduction, autosomal recessive inheritance