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中华临床医师杂志(电子版) ›› 2017, Vol. 11 ›› Issue (20) : 2323 -2326. doi: 10.3877/cma.j.issn.1674-0785.2017.20.006

所属专题: 文献

综述

泛发性雀斑样痣的临床特征及遗传机制
魏露露1, 崔红宙2, 郭书萍2,()   
  1. 1. 030001 太原,山西医科大学研究生学院
    2. 030001 太原,山西医科大学第一医院皮肤科
  • 收稿日期:2017-03-06 出版日期:2017-10-15
  • 通信作者: 郭书萍
  • 基金资助:
    国家自然科学基金(81502714)

Clinical features and genetic mechanisms of generalized lentiginosis

Lulu Wei1, Hongzhou Cui2, Shuping Guo2,()   

  1. 1. Graduate School of Shanxi Medical University, Taiyuan 030000, China
    2. Department of Dermatology, the First Hospital of Shanxi Medical University, Taiyuan 030001, China
  • Received:2017-03-06 Published:2017-10-15
  • Corresponding author: Shuping Guo
  • About author:
    Corresponding author: Guo Shuping, Email:
引用本文:

魏露露, 崔红宙, 郭书萍. 泛发性雀斑样痣的临床特征及遗传机制[J/OL]. 中华临床医师杂志(电子版), 2017, 11(20): 2323-2326.

Lulu Wei, Hongzhou Cui, Shuping Guo. Clinical features and genetic mechanisms of generalized lentiginosis[J/OL]. Chinese Journal of Clinicians(Electronic Edition), 2017, 11(20): 2323-2326.

泛发性雀斑样痣(GL)是一类常染色体显性遗传病,临床表现以多发性黑子合并心血管疾病、智力发育迟缓、神经性耳聋、头面骨发育异常、性腺发育不全、体格矮小等异常。目前研究表明GL患者的发病主要与PTPN11、BRAF、RAF1、SASH1致病基因突变有关。本文对GL的遗传学研究进展进行综述。

Generalized lentiginosis is an autosomal dominant inherited disorder caused by mutations in the PTPN11, RAF1, BRAF, and SASH1 genes. Its characteristic features include lentigines with cardiovascular disease, mental retardation, neurological deafness, craniofacial dysmorphism, gonadal hypoplasia, short physique, and other abnormalities. In this article, we review the progress in the understanding of the genetics of generalized lentiginosisi.

表1 Leopard综合征基因型与表型(OMIM)
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