Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
West African Centre for Cell Biology of Infectious Pathogens, College of Basic and Applied Sciences, University of Ghana, Accra, Ghana.
OMICS. 2022 Jan;26(1):2-18. doi: 10.1089/omi.2021.0181.
Hearing impairment (HI) is a silent planetary health crisis that requires attention worldwide. The prevalence of HI in South Africa is estimated as 5.5 in 100 live births, which is about 5 times higher than the prevalence in high-income countries. This also offers opportunity to drive progressive science, technology and innovation policy, and health systems. We present here a systematic analysis and review on the prevalence, etiologies, clinical patterns, and genetics/genomics of HI in South Africa. We searched PubMed, Scopus, African Journals Online, AFROLIB, and African Index Medicus to identify the pertinent studies on HI in South Africa, published from inception to April 30, 2021, and the data were summarized narratively. We screened 944 records, of which 27 studies were included in the review. The age at diagnosis is ∼3 years of age and the most common factor associated with acquired HI was middle ear infections. There were numerous reports on medication toxicity, with kanamycin-induced ototoxicity requiring specific attention when considering the high burden of tuberculosis in South Africa. The Waardenburg Syndrome is the most common reported syndromic HI. The Usher Syndrome is the only syndrome with genetic investigations, whereby a founder mutation was identified among black South Africans (-c.6377delC). and genes are not major contributors to nonsyndromic HI among Black South Africans. Furthermore, emerging data using targeted panel sequencing have shown a low resolution rate in Black South Africans in known HI genes. Importantly, mutations in known nonsyndromic HI genes are infrequent in South Africa. Therefore, whole-exome sequencing appears as the most effective way forward to identify variants associated with HI in South Africa. Taken together, this article contributes to the emerging field of planetary health genomics with a focus on HI and offers new insights and lessons learned for future roadmaps on genomics/multiomics and clinical studies of HI around the world.
听力障碍（HI）是全球范围内需要关注的无声行星健康危机。南非 HI 的患病率估计为每 100 例活产中有 5.5 例，是高收入国家的 5 倍左右。这也为推动渐进式科学、技术和创新政策以及卫生系统提供了机会。我们在这里呈现了一项关于南非 HI 的患病率、病因、临床模式和遗传学/基因组学的系统分析和综述。我们在 PubMed、Scopus、African Journals Online、AFROLIB 和 African Index Medicus 上进行了检索，以确定南非 HI 的相关研究，这些研究从开始到 2021 年 4 月 30 日发表，并进行了叙述性总结。我们筛选了 944 条记录，其中 27 项研究被纳入综述。诊断时的年龄约为 3 岁，与获得性 HI 最相关的因素是中耳感染。有许多关于药物毒性的报告，在考虑南非结核病负担高的情况下，需要特别注意卡那霉素引起的耳毒性。Wardenburg 综合征是最常见的报道综合征性 HI。Usher 综合征是唯一进行了基因研究的综合征，在南非黑人中发现了一个创始突变（-c.6377delC）。和 基因不是南非黑人非综合征性 HI 的主要贡献者。此外，使用靶向面板测序的新兴数据显示，南非黑人中已知 HI 基因的分辨率较低。重要的是，南非 HI 相关已知非综合征基因的突变不常见。因此，外显子组测序似乎是识别与南非 HI 相关的变体的最有效方法。综上所述，本文为行星健康基因组学这一新兴领域做出了贡献，重点关注 HI，并为全球 HI 的基因组学/多组学和临床研究提供了新的见解和经验教训。
