中国麻风皮肤病杂志 ›› 2019, Vol. 35 ›› Issue (2): 83-85.doi: 10.12144/zgmfskin201902083

• 论著 • 上一篇    下一篇

一例Bjornstad综合征患儿BCS1L基因突变检测

郑璐瑶  陈付英  李越  潘超兰  程茹虹  姚志荣  李明   

  1. 上海交通大学医学院附属新华医院皮肤科，上海,200092
  • 出版日期:2019-02-20 发布日期:2019-03-08
  • 通讯作者: 李明，E-mail：aypyslm@163.com

Mutation analysis of BCS1L gene in a child with Bjornstad syndrome

ZHENG Luyao，CHEN Fuying，LI Yue，PAN Chaolan，CHENG Ruhong，YAO Zhirong，LI Ming   

  1. Department of Dermatology，Xinhua Hospital，Shanghai Jiao Tong University School of Medicine，Shanghai 200092, China
  • Online:2019-02-20 Published:2019-03-08
  • Contact: LI Ming，E-mail：liming01@xinhuamed.com.cn

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摘要： 目的：检测Bjornstad综合征患儿的基因突变。方法：提取患儿，其表型正常父母及100名正常人的外周血DNA，采用二代皮肤靶向测序包检测患儿的基因突变，然后应用Sanger测序方法进行验证。结果：测序结果发现患儿及其父母在BCS1L基因存在2个杂合突变，在第7个外显子上发现c.818delC缺失突变，在第8个外显子上发现c.917G>A错义突变。健康对照中未检测到BCS1L基因突变。结论：该患儿存在BCS1L基因突变，可能与Bjornstad综合征发病有关。

关键词: Bjornstad综合征, BCS1L基因

Abstract: Objective: To detect the gene mutation in a child affected with Bjornstad syndrome. Methods: DNA was extracted from 2 mL peripheral blood in the patient， his unaffected parents and 100 healthy controls. The gene mutations were detected by skin targeted sequencing panel and Sanger sequencing method. Results: A deletion mutation c.818delC in exon 7 and a missense mutation c.917G>Ain exon 8 of the BCS1L gene were detected in the patient and his parents. No mutation was identified in 100 controls. Conclusion: BCS1L gene mutations  may be associated with Bjornstad syndrome.

Key words: Bjornstad syndrome, BCS1L gene