摘要目的:分析1例携带 CCDC39基因复合杂合变异并22q11.21缺失的原发性纤毛运动障碍(PCD)患儿的临床及遗传学特征，探讨两种变异在其表型形成中的作用。 方法:以2025年3月于山西省儿童医院就诊的1例PCD患儿为研究对象。采集患儿及其父母的外周血样，进行全外显子组测序(WES)。对候选变异进行Sanger测序家系验证。用SpliceAI软件预测剪接位点变异的影响。依据ACMG相关指南评估变异的致病性，同时进行拷贝数变异(CNV)分析。本研究通过了本院医学伦理委员会的审查(批准号：IRB-WZ-2025-019)。结果:患儿表现为重症肺炎、支气管扩张、局限性肺气肿、脊柱侧弯、法洛四联征、房间隔缺损等。WES检测发现其携带 CCDC39基因c.1167＋1G>A与c.1009A>T复合杂合变异，分别遗传自其父母，其中c.1009A>T既往未见报道；同时发现其22q11.21区存在708 kb的杂合缺失。 结论:患儿同时携带 CCDC39功能变异与22q11.21结构变异，且存在多系统受累。多种遗传变异共同参与了其表型的产生。

abstractsObjective:To analyze the clinical and genetic features of a child with Primary ciliary dyskinesia (PCD) due to compound heterozygous variants of the CCDC39 gene and a 22q11.21 deletion, and to explore the potential role of the two types of variants in the formation of complex phenotypes. Methods:A child presented at the Shanxi Children′s Hospital in March 2025. due to multiple congenital anomalies was selected as the study subject. Peripheral blood samples were taken from the child and her parents and subjected to whole-exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Effect of splicing variant was predicted using SpliceAI, and pathogenicity was assessed based on the ACMG guidelines. Copy number variation (CNV) analysis was also performed. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No.: IRB-WZ-2025-019).Results:The patient has exhibited multiple features including severe pneumonia, bronchiectasis, localized pulmonary emphysema, scoliosis, tetralogy of Fallot, and atrial septal defect. Genetic testing revealed that she has harbored compound heterozygous variants of the CCDC39 gene, namely c. 1167+ 1G>A and c. 1009A>T, which were inherited from her father and mother, respectively, with the latter being a novel likely pathogenic variant. In addition, a heterozygous deletion of approximately 708 kb at 22q11.21 was detected. Conclusion:The coexistence of CCDC39 gene variants and a 22q11.21 deletion may underlay the development of complex clinical phenotypes in this child.