中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (2): 88-91.doi: 10.12144/zgmfskin202602088

• 论著 • 上一篇    下一篇

遗传性泛发性色素异常症ABCB6基因突变检测

方香1,2,孙乐乐1,2,桑旭1,2,刘永霞1,2,孙勇虎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
  • 出版日期:2026-02-15 发布日期:2026-01-28

Detection of ABCB6 gene mutation in hereditary generalized dyschromatosis

FANG Xiang1,2, SUN Lele1,2, SANG Xu1,2, LIU Yongxia1,2, SUN Yonghu1,2   

  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
  • Online:2026-02-15 Published:2026-01-28

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摘要： 本文对一例泛发性色素异常症患者进行报道并对致病基因突变进行检测分析。患者，女，23岁，1岁左右躯干、四肢出现弥漫分布的不规则色素减退斑，伴大小不等色素沉着斑。患者家属无相似病史。提取患者及本院生物样本库100例正常对照外周血DNA，通过全外显子组高通量测序及Sanger测序验证，发现患者的ABCB6基因18号外显子存在c.2389A＞G杂合突变(p.I797V)，而正常对照未发现该突变。

关键词: 遗传性泛发性色素异常症, ABCB6基因

Abstract: We report a case of generalized dyschromatosis and analyze the pathogenic gene mutation. The patient was a 23-year-old female who presented with diffusely distributed irregular hypopigmented macules accompanied by hyperpigmented macules of varying sizes on the trunk and extremities since approximately 1 year of age. No similar medical history was found among the patient's family members. Peripheral blood DNA was extracted from the patient and 100 normal controls from the hospital's biobank. High-throughput whole-exome sequencing and Sanger sequencing verification revealed a heterozygous mutation c.2389A＞G (p.I797V) in exon 18 of the ABCB6 gene in the patient. This mutation was not detected in the normal controls.

Key words: dyschromatosis universalis hereditaria, ABCB6 gene