中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (3): 163-165.doi: 10.12144/zgmfskin202403163

• 论著 • 上一篇    下一篇

I型神经纤维瘤病一家系基因检测

余佳琳1,梁嘉莉2,刘翌菲2,蔡妍2,张辰希2,张晓颖2,刘成3,李荣华4   

  1. 1广东省东莞市大朗医院皮肤科，广东东莞，523770；2南方医科大学南方医院皮肤科，广东广州，510515；3广州医科大学附属武警广东省总队医院皮肤科， 广东广州， 510517；4福建医科大学附属泉州第一医院皮肤科，福建泉州，362000
  • 出版日期:2024-03-15 发布日期:2024-02-26

Identifying mutation of one family with type 1 neurofibromatosis

YU Jialin1, LIANG Jiali2, LIU Yifei2, CAI Yan2, ZHANG Chenxi2, ZHANG Xiaoying2, LIU Cheng3, LI Ronghua4   

  1. 1 Department of Dermatology, Dalang Hospital of Dongguan City, Dongguan 523770, China;2 Department of Dermatology, Nanfang Hospital Southern Medical University, Guangzhou 510515, China;3 Department of Dermatology, Guangdong Armed Police Corps General Hospital of Guangzhou Medical University, Guangzhou 510517, China;4 Department of Dermatology, The First Affiliated Hospital of Fujian Medical University of Quanzhou, Quanzhou 362000, China
  • Online:2024-03-15 Published:2024-02-26

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摘要： 目的：明确I型神经纤维瘤病（neurofibromatosis type 1，NF1）一家系的致病基因。方法：本研究招募了一例NF1患儿，具有典型的皮肤咖啡牛奶斑、腋窝雀斑及神经纤维瘤。切除眼眶、上颚肿物行组织病理学和免疫组化检查，提取患儿及其家庭成员的外周血DNA，进行了全外显子组测序（Exome sequencing, WES）和Sanger测序。结果：结果显示眼眶、上颚肿物组织病理及免疫组化结果提示神经纤维瘤，在该NF1患儿中发现了一种新发致病性杂合突变NF1 c.204+2T>G，该突变导致氨基酸发生剪接突变。其父母无致病基因，该患儿为自发突变。结论：本研究鉴定一例NF1患儿的致病基因 NF1 c.204+2T>G突变，丰富了NF1基因数据库。

关键词: I型神经纤维瘤病, NF1基因, 突变

Abstract: Objective: To identify the gene mutation in one family of neurofibromatosis type 1 (NF1). Methods: In this study, we recruited a child of NF1 with café-au-lait macules, axillary freckles and neurofibromas. In addition to removing the child's maxilla and orbital tumors for histological and immunohistochemical analysis, the child's and her relatives' peripheral blood DNA was also taken for whole exome sequencing (WES) and Sanger sequencing. Results: The features of skin biopsy were accordance with neurofibromatosis. The sequencing results identified a de novo heterozygous pathogenic mutation of NF1 c.204+2T>G in this child, resulting in amino acid splicing mutations. There was no pathogenic gene in the parents. Conclusion: This study identified the NF1 c.204+2T>G mutation in the NF1 patient. This study enriches the NF1 gene mutation database.

Key words: neurofibromatosis type 1, NF1 gene, mutation