杂合子顺式 HYDIN 突变导致原发性睫状肌运动障碍。

IF 12.8 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Med Pub Date : 2024-09-21 DOI:10.1016/j.medj.2024.08.007
Randy Suryadinata, Paul Martinello, Vicki Bennett-Wood, Phil Robinson
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引用次数: 0

摘要

背景:纤毛基因HYDIN的产物是运动纤毛中央对(CP)装置内c2b投射的一个组成部分。该基因的双拷贝突变会导致原发性纤毛运动障碍(PCD),这是一种不常见的影响纤毛运动的异质性隐性疾病,会导致粘液纤毛清除缺陷,从而引发慢性化脓性肺病:方法:从维多利亚诊断服务机构接受 PCD 诊断的两兄妹中采集鼻腔刷洗样本。在使用高速视频显微镜(HSVM)、透射电子显微镜和免疫荧光法研究纤毛结构和功能之前,先培养鼻腔气道上皮细胞(NAECs):结果:在高速视频显微镜(HSVM)下,两个兄弟姐妹的培养NAEC均显示出纤毛跳动模式缺陷。免疫荧光显示纤毛轴丝中的 HYDIN 和相关蛋白 SPEF2 丢失,从而确诊为 PCD:本病例报告详细介绍了两兄妹的诊断情况,他们表现出与隐性HYDIN突变的PCD患者相似的纤毛跳动缺陷表型。与众不同的是,这对兄妹都携带两个以前未报道过的HYDIN突变,而且是顺位突变,这表明在没有纤毛基因双倍重复突变的情况下,也有可能出现疾病表现:作者声明本研究没有资金支持。
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Heterozygous cis HYDIN mutations cause primary ciliary dyskinesia.

Background: The product of ciliary gene HYDIN is an integral component for c2b projection within the motile cilia central pair (CP) apparatus. Biallelic mutations of this gene cause primary ciliary dyskinesia (PCD), an uncommon heterogeneous recessive disorder affecting motile cilia, resulting in defective mucociliary clearance that leads to chronic suppurative lung disease.

Methods: Nasal brushing samples were collected from two siblings attending the Victorian Diagnostic service for PCD. Nasal airway epithelial cells (NAECs) were cultured before cilia structure and function studies using high-speed video microscopy (HSVM), transmission electron microscopy, and immunofluorescence.

Findings: Cultured NAECs from both siblings showed defective cilia beating patterns under HSVM. A confirmatory PCD diagnosis was achieved through immunofluorescence, which showed the loss of HYDIN and the associated protein SPEF2 from the cilia axoneme.

Conclusions: This case report details the diagnosis of two siblings who displayed similar defective cilia beating phenotypes seen in patients with PCD bearing recessive HYDIN mutations. Uniquely, both siblings carry two previously unreported HYDIN mutations, which are in the cis position, demonstrating the possibility for disease manifestation without biallelic mutations of ciliary genes.

Funding: The authors declare no funding support for this study.

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来源期刊
Med
Med MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
17.70
自引率
0.60%
发文量
102
期刊介绍: Med is a flagship medical journal published monthly by Cell Press, the global publisher of trusted and authoritative science journals including Cell, Cancer Cell, and Cell Reports Medicine. Our mission is to advance clinical research and practice by providing a communication forum for the publication of clinical trial results, innovative observations from longitudinal cohorts, and pioneering discoveries about disease mechanisms. The journal also encourages thought-leadership discussions among biomedical researchers, physicians, and other health scientists and stakeholders. Our goal is to improve health worldwide sustainably and ethically. Med publishes rigorously vetted original research and cutting-edge review and perspective articles on critical health issues globally and regionally. Our research section covers clinical case reports, first-in-human studies, large-scale clinical trials, population-based studies, as well as translational research work with the potential to change the course of medical research and improve clinical practice.
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