Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-11 DOI:10.1002/ajmg.a.63877

Qiang Li, Shuping Sun, Bin Zuo, Chengyu Lian, Wenxue Tang, Hongen Xu, Wei Lu

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引用次数: 0

Abstract

The rapid development and clinical application of sequencing technologies enable the genetic diagnosis of inherited deafness. P2RX2, as the gene responsible for autosomal dominant non‐syndromic deafness‐41 (DFNA41), has been proven to be essential for life‐long normal hearing and for the protection of noise‐induced hearing loss (NIHL). Our present study reports a missense variant in the P2RX2 gene (c.178G > T (p.V60L)), for the second time worldwide, in a five‐generation kindred living in Henan, China. Despite carrying the same variant, the affected members in this family appear to present with earlier‐onset hearing loss and poorer hearing compared to the original DFNA41 families. In addition, this study supplements some content that was not covered in previous reports. We quantitatively evaluated the pain perception ability of some members using the Pain Vision PS‐2100 system, and further found an interesting clinical manifestation, that is, hyperalgesia, in heterozygotes for P2RX2 p.V60L. The cochlear implant (CI) was also provided for the proband of profound deafness, resulting in satisfactory clinical outcomes. Finally, we carried out a systematic review of recently published articles on the P2RX2 gene, which is beneficial for better understanding the role of the P2RX2 gene in the auditory system and the pathogenic mechanisms in sensorineural hearing loss (SNHL).

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一个 P2RX2 基因可能致病变异的中国家庭植入人工耳蜗的新临床表现和良好治疗效果

测序技术的快速发展和临床应用使得遗传性耳聋的基因诊断成为可能。P2RX2 作为常染色体显性非综合征性耳聋-41（DFNA41）的致病基因，已被证实对终生正常听力和保护噪声性听力损失（NIHL）至关重要。本研究报告了一个生活在中国河南的五代同堂中的 P2RX2 基因（c.178G > T (p.V60L)）的错义变异，这在全球范围内尚属第二次。尽管携带相同的变异基因，但与最初的 DFNA41 家族相比，该家族的受影响成员似乎更早出现听力损失，听力也更差。此外，本研究还补充了一些以往报告中未涉及的内容。我们使用Pain Vision PS-2100系统定量评估了部分成员的痛觉能力，并进一步发现了P2RX2 p.V60L杂合子的一种有趣的临床表现，即痛觉减退。此外，我们还为一名重度耳聋患者植入了人工耳蜗，并取得了令人满意的临床效果。最后，我们对最近发表的有关 P2RX2 基因的文章进行了系统综述，这有利于更好地理解 P2RX2 基因在听觉系统中的作用以及感音神经性听力损失（SNHL）的致病机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.