中国麻风皮肤病杂志 ›› 2025, Vol. 41 ›› Issue (6): 420-423.doi: 10.12144/zgmfskin202506420

• 论著 • 上一篇    下一篇

色素异常性皮肤淀粉样变病一家系GPNMB基因突变研究

张力天,黄敬然,王蕾,方零露,周英   

  1. 广东医科大学附属医院皮肤性病研究所，广东湛江，524001
  • 出版日期:2025-06-15 发布日期:2025-05-23

Mutations of GPNMB gene in a family with amyloidosis cutis dyschromica

ZHANG Litian, HUANG Jingran, WANG Lei, FANG Linglu, ZHOU Ying   

  1. Institute of Dermatology and Venereal Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, China
  • Online:2025-06-15 Published:2025-05-23

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摘要： 目的：明确色素异常性皮肤淀粉样变病（ACD）一家系的致病基因。方法：提取先证者及其侄女的外周血DNA进行高通量全外显子测序，并通过Sanger测序验证基因突变。结果：先证者及其侄女均同时存在GPNMB基因的第5号外显子c.565C＞T纯合突变和第1号内含子c.70+7A＞G杂合突变。根据美国医学遗传学与基因组学会（ACMG）发布的变异解读指南行致病性分析，判定纯合突变c.565C＞T为致病性变异；而杂合突变c.70+7A＞G临床意义未明。结论：该家系GPNMB基因c.565C＞T突变可能与该家系ACD发病有关。

关键词: 皮肤淀粉样变病, 色素异常, GPNMB基因, 突变

Abstract: Objective: To identify the pathogenic gene of a family with cutaneous amyloidosis with abnormal pigmentation (ACD). Methods: Peripheral blood DNA of the proband and her niece was extracted for high-throughput whole exome sequencing, and gene mutations were verified by Sanger sequencing. Results: Both the proband and her niece had homozygous mutation c.565C＞T in exon 5 and heterozygous mutation c.70+7A＞G in intron 1 of the GPNMB gene. Pathogenicity analysis was performed according to the variant interpretation guidelines issued by the American College of Medical Genetics and Genomics (ACMG). The homozygous mutation c.565C＞T was determined to be a pathogenic variant, while the clinical significance of the heterozygous mutation c.70+7A＞G was unclear. Conclusions: The c.565C＞T mutation in the GPNMB gene of this family may be related to the onset of ACD in this family.

Key words: cutaneous amyloidosis, dyschromia, GPNMB gene, mutation