DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature.

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Case Reports in Medicine Pub Date : 2023-01-01 DOI:10.1155/2023/8436715
Fatemeh Sodeifian, Noosha Samieefar, Sepideh Shahkarami, Elham Rayzan, Simin Seyedpour, Meino Rohlfs, Christoph Klein, Delara Babaie, Nima Rezaei
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Abstract

Background: Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. DNAH11 (dynein axonemal heavy chain 11) is a gene that is responsible for the production of cilia's protein and encodes the outer dynein arm. Dynein heavy chains are motor proteins of the outer dynein arms and play an essential role in ciliary motility. Case Presentation. A 3-year-old boy, the offspring of consanguineous parents, was referred to the pediatric clinical immunology outpatient department with a history of recurrent respiratory tract infections and periodic fever. Furthermore, on medical examination, situs inversus was recognized. His lab results revealed elevated levels of erythrocyte sedimentation rate (ESR) and C reactive protein (CRP). Serum IgG, IgM, and IgA levels were normal, while IgE levels were elevated. Whole exome sequencing (WES) was performed for the patient. WES demonstrated a novel homozygous nonsense variant in DNAH11 (c.5247G > A; p. Trp1749Ter).

Conclusion: We reported a novel homozygous nonsense variant in DNAH11 in a 3-year-old boy with primary ciliary dyskinesia. Biallelic pathogenic variants in one of the many coding genes involved in the process of ciliogenesis lead to PCD.

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DNAH11和一种与位置反向相关的新遗传变异:一个病例报告和文献综述。
背景:原发性纤毛运动障碍(PCD),也被称为不动纤毛综合征,是一种临床和遗传异质性综合征。纤毛功能不正常导致纤毛黏液清除受损。新生儿呼吸窘迫、鼻窦炎、复发性胸部感染、湿咳和中耳炎是本病的呼吸道表现。它也可能表现为男性不育,以及两性的侧性缺陷,如部位异常(Kartagener综合征)。在过去的十年中,40个基因中的许多致病变异已被确定为原发性纤毛运动障碍的病因。DNAH11(动力蛋白轴突重链11)是一种基因,负责产生纤毛蛋白并编码外动力蛋白臂。动力蛋白重链是动力蛋白外臂的运动蛋白,在纤毛运动中起重要作用。案例演示。1例3岁男童,系近亲父母所生,以反复呼吸道感染及周期性发热病史转介至儿科临床免疫门诊。此外,在医学检查中,确认了倒位。他的实验室结果显示红细胞沉降率(ESR)和C反应蛋白(CRP)水平升高。血清IgG、IgM、IgA水平正常,IgE水平升高。对患者进行全外显子组测序。WES在DNAH11中发现了一个新的纯合无义变异(c.5247G > a;Trp1749Ter页)。结论:我们报道了一个3岁男孩原发性纤毛运动障碍DNAH11的新纯合无义变异。参与纤毛发生过程的许多编码基因之一的双等位致病变异导致PCD。
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来源期刊
Case Reports in Medicine
Case Reports in Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
1.70
自引率
0.00%
发文量
53
审稿时长
13 weeks
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