天津医药

天津医药 ›› 2018, Vol. 46 ›› Issue (2): 199-202.doi: 10.11958/20171075

• 临床研究 • 上一篇    下一篇

ATP6V0A2基因突变致皮肤松弛症一例及文献复习

石武娟， 舒剑波， 刘晓军， 宋立， 麻庆荣， 王丹△   

  1. 天津市儿童医院新生儿科 （邮编300134）
  • 收稿日期:2017-10-12 修回日期:2017-12-27 出版日期:2018-02-15 发布日期:2018-02-15
  • 通讯作者: 石武娟 E-mail:13132163129@163.com
  • 基金资助:
    天津市自然科学基金项目

Case report and literature review of ATP6V0A2 gene mutation features of the patient with congenital cutis laxa

 SHI Wu-juan, SHU Jian-bo, LIU Xiao-jun, SONG Li, MA Qing-rong, WANG Dan△   

  1. Department of New Pediatrics, Tianjin Children’ s Hospital, Tianjin 300134, China
  • Received:2017-10-12 Revised:2017-12-27 Published:2018-02-15 Online:2018-02-15
  • Contact: wu-juan shi E-mail:13132163129@163.com

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摘要： 摘要： ATP6VOA2 基因突变致常染色体隐性遗传的皮肤松弛症在新生儿中发病率极低， 国内鲜有报道。我院近期诊断 1 例 ATP6VOA2 基因突变致常染色体隐性遗传皮肤松弛症， 本文回顾了该例患者的诊治经过并复习了相关文献资料， 以提高对本病的认识。

关键词: 关键词： 皮肤松弛症, 染色体畸变, 婴儿, 新生, ATP6V0A2基因

Abstract: Abstract：The incidence of autosomal recessive cutis laxa induced by ATP6VOA2 gene mutation is extremely low in neonates and rarely reported in China. There was one case of ATP6VOA2 gene mutations caused autosomal recessive cutis laxa diagnosed in Tianjin Children’ s Hospital. This article reviewed the diagnosis and treatment of the patient and reviewed the relevant literature, in order to improve the understanding of the disease.

Key words: Key words： cutis laxa, chromosome aberrations, infant, newborn, ATP6VOA2 gene