一例Bjornstad综合征患儿BCS1L基因突变检测

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。

Mutation analysis of BCS1L gene in a child with Bjornstad syndrome

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.