Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia

IF 1 4区生物学 Q4 GENETICS & HEREDITY Annals of Human Genetics Pub Date : 2024-03-22 DOI:10.1111/ahg.12559

Faisal Almalki

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Abstract

Congenital hearing loss is one of the most common sensory disabilities worldwide. The genetic causes of hearing loss account for 50% of hearing loss. Genetic causes of hearing loss can be classified as nonsyndromic hearing loss (NSHL) or syndromic hearing loss (SHL). NSHL is defined as a partial or complete hearing loss without additional phenotypes; however, SHL, known as hearing loss, is associated with other phenotypes. Both types follow a simple Mendelian inheritance fashion. Several studies have been conducted to uncover the genetic factors contributing to NSHL and SHL in Saudi patients. However, these studies have encountered certain limitations. This review assesses and discusses the genetic factors underpinning NSHL and SHL globally, with a specific emphasis on the Saudi Arabian context. It also explores the prevalence of the most observed genetic causes of NSHL and SHL in Saudi Arabia. It also sheds light on areas where further research is needed to fully understand the genetic foundations of hearing loss in the Saudi population. This review identifies several gaps in research in NSHL and SHL and provides insights into potential research to be conducted.

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沙特阿拉伯综合征和非综合征听力损失遗传学原因的回顾和研究缺口识别。

先天性听力损失是全球最常见的感官残疾之一。遗传性听力损失占听力损失的 50%。遗传性听力损失可分为非综合征性听力损失（NSHL）和综合征性听力损失（SHL）。非综合征性听力损失被定义为部分或完全听力损失，不伴有其他表型；然而，SHL 被称为听力损失，与其他表型相关。这两种类型都遵循简单的孟德尔遗传方式。为了揭示导致沙特籍患者 NSHL 和 SHL 的遗传因素，已经开展了多项研究。然而，这些研究都存在一定的局限性。本综述在全球范围内评估和讨论了导致 NSHL 和 SHL 的遗传因素，并特别强调了沙特阿拉伯的情况。它还探讨了在沙特阿拉伯最常见的 NSHL 和 SHL 遗传病因的发病率。它还揭示了需要进一步研究的领域，以充分了解听力损失在沙特阿拉伯人口中的遗传基础。本综述指出了在 NSHL 和 SHL 研究方面存在的若干差距，并对可能开展的研究提出了见解。

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来源期刊

Annals of Human Genetics 生物-遗传学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.