中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (5): 323-326.doi: 10.12144/zgmfskin202305323

• 论著 • 上一篇    下一篇

一例II型Waardenburg综合征的基因突变分析

谭英剑,陈志明,莫然,黄昕,杨勇   

  1. 中国医学科学院、北京协和医学院皮肤病医院遗传病中心、江苏省皮肤病与性病学重点实验室，江苏南京，210042
  • 出版日期:2023-05-15 发布日期:2023-05-16

Genetic detection of a case with type Ⅱ Waardenburg Syndrome

TAN Yingjian, CHEN Zhiming, MO Ran, HUANG Xin, YANG Yong   

  1. Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China
  • Online:2023-05-15 Published:2023-05-16

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摘要： 目的：报道一例表现为面部多发色素沉着伴色素脱失斑点、蓝色虹膜、先天性耳聋的II型Waardenburg综合征，并明确其致病基因突变。方法：收集患者及其父母临床资料和外周血，提取其外周血基因组DNA，并利用遗传性皮肤病目标基因外显子测序技术筛查可疑致病基因，经生物信息学分析明确致病突变，进一步针对该突变进行共分离验证以明确诊断。结果：该患者的MITF基因存在 c.649_651delAGA（p.R217del）杂合突变，而在其亲生父母的外周血DNA中均未检出，提示该突变为患者新发突变，根据ACMG指南，可判断该突变为致病性突变。结论：MITF基因的c.649_651delAGA（p.R217del）杂合突变是导致此例患者II型Waardenburg综合征的原因。

关键词: Waardenburg综合征, MITF, 蓝色虹膜

Abstract: Objective: To identify the etiology and diagnosis of a patient characterized by facial hyperpigmentation with hypopigmentation, blue iris, and congenital deafness. Methods: Clinical data of the patient and his parents were collected. Peripheral blood DNA were extracted from them. Gene panel of genodermatoses sequencing was used to screen out the pathogenic genes, which was further obtained by bioinformatics analysis, and verified by Sanger sequencing in the patient and his parents. Results: A heterozygous mutation c.649_651delAGA (p.R217del) in MITF was identified in the patient but not in the parents, suggesting that the mutation was a de novo mutation. Conclusion: The heterozygous mutation of c.649_651delAGA (p.R217del) of MITF gene was the cause of  Waardenburg syndrome type II in this patient.

Key words: Waardenburg syndrome, MITF, blue iris