中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (11): 796-799.doi: 10.12144/zgmfskin202311796

• 论著 • 上一篇    下一篇

应用全外显子测序技术筛查LEOPARD综合征患者致病基因一例

鲁巧云1,姜北雪2，3,王充2，3,阳芳2，3   

  1. 1湖北文理学院附属医院，襄阳市中心医院皮肤科， 湖北襄阳，441021；2深圳市人民医院（暨南大学第二临床医学院，南方科技大学第一附属医院）皮肤科，广东深圳，518020；3国家皮肤与免疫疾病临床医学研究中心分中心建设单位，广东深圳，518020
  • 出版日期:2023-11-15 发布日期:2023-10-27

Mutation analysis of LEOPARD syndrome by whole exome sequencing

LU Qiaoyun1, JIANG Beixue2,3, WANG Chong2,3, YANG Fang2,3   

  1. 1 Xiangyang Central Hospital, Affiliated Hospital Of Hubei University of Arts and Science, Xiangyang 441021, China; 2 Department of Dermatology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen 518020, China; 3 Candidate Branch of National Clinical Research Center for Skin Diseases, Shenzhen 518020, China
  • Online:2023-11-15 Published:2023-10-27

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摘要： 目的：报道一例LEOPARD综合征（LS）患者并检测其基因突变。方法：收集患者临床资料，提取该患者及父亲外周血DNA，应用全外显子组高通量测序检测技术，筛查患者致病基因。结果：全外显子测序结果发现患者PTPN11基因12号外显子第1415位核苷酸发生 c.1415C>T杂合突变，导致第472号氨基酸由Thr变为Met(p.Thr472Met)。结论：PTPN11基因12号外显子c.1415C>T (p.Thr472Met)突变为该例LEOPARD综合征的致病突变位点。

关键词: LEOPARD综合征, PTPN11, 多发性黑子, 基因突变

Abstract: Objective: To report a patient with LEOPARD syndrome (LS) and detect the gene mutation. Methods: The data of the patient with LS were collected. Peripheral blood samples were obtained from the patient. Whole exome high-throughput sequencing, combined with mutation site detection and annotation interpretation system, was used to analyze the gene mutation in this patient. Results: A heterozygous missense mutation c.1415C>T (p.Thr472Met) was found in exon 12 of the PTPN11 gene in the patient. Conclusion: The mutations 1415C>T(p.Thr472Met) in the exon 12 of PTPN11 gene was the pathogenic mutation site in this case with LS.

Key words: LEOPARD syndrome, PTPN11, lentigines, gene mutation