背景：原发性纤毛运动障碍 (PCD) 是一种罕见的运动纤毛遗传异质性疾病。PCD 的共同特征包括上呼吸道和下呼吸道疾病、分泌性中耳炎、内脏内翻和生育问题。迄今为止，尽管已经确定了几个 PCD 相关基因，但大多数 PCD 病例的遗传原因仍然难以捉摸。

方法：在本案例研究中，我们分析了 1 例疑似患有 PCD 的单绒毛膜双羊膜双胞胎的临床和遗传数据，其临床和放射学特征包括部位反转、反复湿咳和鼻窦炎以及不同程度的呼吸窘迫。 . 进行全外显子组测序以鉴定DNAH11双胞胎的基因。Sanger测序和实时定量聚合酶链反应（RT-qPCR）用于验证DNAH11患者和双胞胎的变异。

结果：在这对双胞胎中，我们发现了 c.2436C > G (p.Y812 *) 的新突变和包含 2.0 Kb 的 7P15.3 ([GRCh38] chr7: g.21,816,397-21,818,402) 的致病性缺失。删除的区域包括外显子 64 和 65DNAH11. Sanger测序还显示，这对双胞胎的父亲是杂合子C.2436C> G的携带者，母亲身上检测到杂合子缺失。没有发现其他临床相关的遗传变异。

结论：我们描述一部小说DNAH11PCD 新生儿双胞胎的基因复合杂合突变，并建议在出现呼吸窘迫和/或内脏倒置的新生儿中应考虑 PCD 诊断。PCD的早期诊断和治疗将有助于控制疾病进展并改善患者的生活质量。

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Background: Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder of motile cilia. Common features of PCD include upper and lower respiratory tract disease, secretory otitis media, situs inversus and fertility problems. To date, although several PCD-associated genes have been identified, the genetic causes of most PCD cases remain elusive.

Methods: In this case study, we analyzed the clinical and genetic data of one case of monochorionic diamniotic twins which were suspected of having PCD on the basis of clinical and radiological features including situs inversus, recurrent wet cough and sinusitis as well as varying degrees of respiratory distress. Whole-exome sequencing was performed to identify variants of the DNAH11 gene in the twins. Sanger sequencing and real-time quantitative polymerase chain reaction (RT-qPCR) were used for validation of DNAH11 variants both in the patient and the twins.

Results: In the twins, we found a novel mutation at c.2436C > G (p.Y812 *) and a pathogenic deletion encompassing 2.0 Kb of 7P15.3 ([GRCh38] chr7: g.21,816,397-21,818,402). The deleted region included exons 64 and 65 of DNAH11. Sanger sequencing also revealed that the twins’ father was a carrier of heterozygous C.2436C > G and a heterozygous deletion was detected in the mother. No other clinically relevant genetic variants were identified.

Conclusion: We describe a novel DNAH11 gene compound heterozygous mutation in newborn twins with PCD and recommend that PCD diagnosis should be considered in newborns presenting with respiratory distress and/or situs inversus. Early diagnosis and treatment of PCD will help control disease progression and improve the patient’s quality of life.