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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes
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Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes

机译：原发性睫状运动障碍：具有新型 DNAH5 基因突变和可变表型的家庭中的Kartagener综合征

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Background Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder with variable clinical manifestations, including chronic rhinosinusitis, otitis media, bronchitis, pneumonia, bronchiectasis, situs inversus totalis, reduced fertility in female patients and male infertility. The condition occurs as a result of abnormal ciliary structure and function. It is presented in early life with an estimated incidence of approximately 1/16,000–20,000. About 50% of the affected patients have situs inversus totalis leading to Kartagener syndrome (MIM: 244400 ). So far more than 19 causative genes have been associated with primary ciliary dyskinesia. Case report Here we are presenting Kartagener syndrome in a consanguineous Kuwaiti family with a novel pathogenic DNAH5 gene mutation; namely c.9864dupA; [p.Pro3289ThrfsStop52], which is predicted to result in protein truncation. In this family several homozygous individuals showed variable disease manifestations. Conclusion Molecular test helped in confirmation of the clinical diagnosis and in providing better management of the affected family members, which in turn could significantly improve overall quality of their life. Consequently, preimplantation genetic diagnosis, which is the most acceptable procedure in the Islamic countries, was offered to the heterozygous-carrier couple in order to prevent recurrence of the disease in their future generations.
机译：背景原发性睫状运动障碍是遗传上异质的常染色体隐性遗传疾病，具有多种临床表现，包括慢性鼻-鼻窦炎，中耳炎，支气管炎，肺炎，支气管扩张，总部位逆转，女性患者的生育力降低和男性不育。该病因睫状结构和功能异常而发生。它出现于生命早期，估计发病率约为1 / 16,000–20,000。大约50％的患病患者患有总位反转，从而导致Kartagener综合征（MIM：244400）。迄今为止，已有超过19个致病基因与原发性睫状运动障碍有关。病例报告在这里，我们介绍了一个近亲科威特家族中的一种新型致病性DNAH5基因突变的Kartagener综合征。即c.9864dupA; [p.Pro3289ThrfsStop52]，预计会导致蛋白质截断。在这个家庭中，几个纯合的个体表现出可变的疾病表现。结论分子检测有助于确定临床诊断并更好地管理受影响的家庭成员，进而可以显着改善其整体生活质量。因此，向杂合子携带者夫妇提供了在伊斯兰国家最可接受的植入前遗传学诊断方法，以防止这种疾病在其后代复发。

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