中国麻风皮肤病杂志 ›› 2025, Vol. 41 ›› Issue (6): 406-409.doi: 10.12144/zgmfskin202506406

• 论著 • 上一篇    下一篇

斑驳病一家系致病基因突变研究

王田宇1,2*,王萌1,2*,桑旭1,2,孙乐乐1,2,岳振华1,2,孙勇虎1,2,颜潇潇1,2   

  1. 1山东第一医科大学附属皮肤病医院，山东济南，250022； 2山东省皮肤病性病防治研究所，山东济南，250022 *共同第一作者
  • 出版日期:2025-06-15 发布日期:2025-05-21

Clinical and gene mutation study of a piebaldism pedigree

WANG Tianyu1,2*, WANG Meng1,2*, SANG Xu1,2, SUN Lele1,2, YUE Zhenhua1,2, SUN Yonghu1,2, YAN Xiaoxiao1,2   

  1. 1 Dermatology Hospital of Shandong First Medical University, Jinan 250022, China; 2 Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan 250022, China *Co-first author
  • Online:2025-06-15 Published:2025-05-21

PDF (PC)

9

摘要： 本文对国内斑驳病一家系进行报道并对致病基因突变进行检测分析。先证者，男，7岁，出生后于前额、双小腿出现不规则白斑，白斑范围不随先证者年龄增长变大，白斑中央逐渐出现小片岛状色素过度沉着区域。患儿母亲有相似病史。提取患儿母亲及正常对照外周血DNA，通过全外显子组高通量测序及Sanger测序验证，发现先证者及其母亲的KIT基因19号外显子存在c.2776_2777insCACG杂合突变（p.P896fs），而正常对照未发现该突变且该突变为首次报道。

关键词: 斑驳病, KIT基因, 突变

Abstract: We report a domestic family of piebaldism and analyzes the pathogenic gene mutations. The proband was a 7-year-old boy who presented with irregular white patches on the forehead and both lower legs shortly after birth. The area of the white patches did not expand with age, and small hyperpigmented macule gradually appeared in the center of the white patches. The proband's mother exhibited similar clinical manife-stations. The peripheral blood DNA from the proband, his mother, and a normal control were extracted, and then whole-exome high-throughput sequencing and Sanger sequencing validation were performed. A heterozygous mutation c.2776_2777insCACG (p.P896fs) in exon 19 of the KIT gene was identified in both the proband and his mother. This mutation was not found in the normal control and was reported for the first time.

Key words: piebaldism, KIT gene, mutation