原发性纤毛运动障碍患者外显子组测序阴性后的遗传诊断思路

The Expanding Genetic Diagnostic Approaches for Patients with Primary Ciliary Dyskinesia Beyond the Exome

  • 摘要: 原发性纤毛运动障碍(PCD)是一种罕见的单基因遗传病,主要与动纤毛结构和功能障碍有关,多呈常染色体隐性遗传。该疾病会累及多个器官,并且患者的临床表型与遗传异质性为其诊断带来了极大的困难。尽管临床上外显子组测序的使用大大提高了PCD的诊断率,但仍有约30%以上的患者未能得到有效的诊断。本文对PCD的发病机制、诊断方法及外显子组测序阴性后的诊断思路和新兴遗传检测技术进行综述和探讨,以期帮助临床医师进一步选择更多的新兴遗传检测方法,从而提高PCD的阳性诊断率,并提高临床医师对其遗传致病机制的深刻理解,为将来实践基因治疗奠定基础。

     

    Abstract: Primary ciliary dyskinesia (PCD) is a rare monogenic disorder primarily associated with structural and functional abnormalities of motile cilia. It is typically inherited in an autosomal recessive pattern. The disease affects multiple organs, and the variability in clinical phenotypes, along with genetic heterogeneity significantly complicates its diagnosis. Although the application of clinical exome sequencing has significantly improved the diagnostic rate of PCD, more than 30% of patients are still unable to obtain a definitive diagnosis. This article reviews and discusses the pathogenesis, diagnostic methods, and expanding genetic diagnostic approaches for patients with PCD that are negative for exome sequencing. The aim of this article is to assist clinicians in selecting more advanced emerging genetic testing technologies, with the hope of increasing the positive diagnostic rate of PCD, deepening the understanding of its genetic pathogenesis, and laying a foundation for the practice of gene therapy in the future.

     

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