摘要目的:分析1例Kartagener综合征(KTS)患儿的临床特征与遗传学病因。方法:选取2020年10月于邛崃市妇幼保健院就诊的1例KTS患儿为研究对象。对患儿及其父母进行家系全外显子组测序以及生物信息学分析，通过Sanger测序进一步验证候选变异。模拟分析错义变异导致的蛋白结构改变，应用HSF 3.0在线平台对非编码区变异进行危害性预测。结果:患儿具有支气管扩张、鼻窦炎及内脏反位等临床表现，基因检测提示其 DNAH5基因存在c.5174T>C与c.7610-3T>G复合杂合变异，Sanger测序证实二者分别遗传自患儿母亲和父亲。两个变异在dbSNP、1000 Genomes、ExAC、ClinVar及HGMD等数据库中均未见收录。蛋白结构分析结果提示c.5174T>C(p.Leu1725Pro)可能影响蛋白局部结构的稳定性从而影响生物活性，HSF 3.0分析结果提示c.7610-3T>G可能破坏剪接受体从而影响转录。 结论:DNAH5基因c.5174T>C与c.7610-3T>G复合杂合变异可能是患儿的遗传学病因。上述发现进一步拓展了 DNAH5基因的变异谱。

abstractsObjective:To explore the clinical characteristics and genetic basis of a child with Kartagener syndrome (KTS).Methods:Trio-whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. Changes in protein structure due to missense variants were simulated and analyzed, and the Human Splicing Finder 3.0 (HSF 3.0) online platform was used to predict the effect of the variant of the non-coding region.Results:The child had featured bronchiectasis, sinusitis and visceral inversion. Genetic testing revealed that he has harbored compound heterozygous variants of the DNAH5 gene, namely c. 5174T>C and c. 7610-3T>G. Sanger sequencing confirmed the existence of the variants. The variants were not found in the dbSNP, 1000 Genomes, ExAC, ClinVar and HGMD databases. Protein structural analysis suggested that the c. 5174T>C (p.Leu1725Pro) variant may affect the stability of local structure and its biological activity. The results of HSF 3.0 analysis suggested that the c. 7610-3T>G variant has probably destroyed a splicing receptor to affect the transcription process. Conclusion:The compound heterozygous variants of the DNAH5 gene probably underlay the pathogenesis in the child. Above finding may facilitate the understanding of the clinical characteristics and genetic basis of KTS, and further expand the spectrum DNAH5 gene variants.