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一例Bjornstad综合征患儿BCS1L基因突变检测 被引量:1

Mutation analysis of BCS1L gene in a child with Bjornstad syndrome
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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。 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.
作者 郑璐瑶 陈付英 李越 潘超兰 程茹虹 姚志荣 李明 ZHENG Luyao;CHEN Fuying;LI Yue;PAN Chaolan;CHENG Ruhong;YAO Zhirong;LI Ming(Department of Dermatology,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处 《中国麻风皮肤病杂志》 2019年第2期83-85,共3页 China Journal of Leprosy and Skin Diseases
关键词 Bjornstad综合征 BCS1L基因 Bjornstad syndrome BCS1L gene
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