一例原发性纤毛运动障碍29型患儿CCNO基因突变分析

Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing

目的对1例疑似原发性纤毛运动障碍的患儿进行临床和遗传学分析,以明确其致病原因。方法提取患儿及其父母外周血基因组DNA,采用目标基因捕获测序技术对患儿进行基因突变分析,并对疑似致病性突变进行Sanger测序验证和生物信息学预测。结果患儿以重症肺炎、支气管扩张、鼻窦炎和气胸为主要临床表现。基因测序显示患儿CCNO基因存在c.848T>C(p.L283P)和c.262_263insGGCCCGGCCC(p.Q88Rfs*51)杂合突变,分别遗传自母亲和父亲,且生物信息学预测均为致病性突变。结论患儿为CCNO基因复合杂合突变导致的原发性纤毛运动障碍29型。

Objective To explore the clinical and genetic features of a child with primary ciliary dyskinesia. Methods Genomic DNA of the child and her parents was extracted and subjected to targeted gene capture and next generation sequencing. Suspected mutation was verified by Sanger sequencing, with its nature and impact predicted by Bioinformatic analysis. Results Clinical manifestations of the child mainly included severe pneumonia, bronchiectasia, nasosinusitis and pneumothorax. DNA sequencing showed that she has carried compound heterozygous mutations of the CCNO gene, namely c. 848T>C (p.L283P) and c. 262_263insGGCCCGGCCC (p.Q88Rfs*51), which were respectively inherited from her mother and father. Conclusion The child was diagnosed with primary ciliary dyskinesia caused by the compound heterozygous mutations of the CCNO gene.