Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah 27272, United Arab Emirates.
Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah 27272, United Arab Emirates.
Genes (Basel). 2024 May 6;15(5):588. doi: 10.3390/genes15050588.
Hearing impairment, a rare inherited condition, is notably prevalent in populations with high rates of consanguinity. The most common form observed globally is autosomal recessive non-syndromic hearing loss. Despite its prevalence, this genetic disorder is characterized by a substantial genetic diversity, making diagnosis and screening challenging. The emergence of advanced next-generation sequencing (NGS) technologies has significantly advanced the discovery of genes and variants linked to various conditions, such as hearing loss. In this study, our objective was to identify the specific variant causing hearing loss in a family from Syria using clinical exome sequencing. The proband in the family exhibited profound deafness as shown by pure-tone audiometry results. The analysis of the different variants obtained by NGS revealed the presence of a nonsense mutation within the gene. Through Sanger sequencing, we verified that this variant segregates with the disease and was not present in the control population. Moreover, we conducted a comprehensive review of all reported deafness-related mutations and their associated phenotypes. Furthermore, we endeavored to carry out a comparative analysis between the and genes, with the objective of identifying potential factors that could explain the notable discrepancy in mutation frequency between these two genes.
听力障碍是一种罕见的遗传性疾病，在近亲结婚率较高的人群中尤为普遍。全球最常见的形式是常染色体隐性非综合征性听力损失。尽管这种遗传疾病很常见，但它具有很大的遗传多样性，这使得诊断和筛查具有挑战性。先进的新一代测序（NGS）技术的出现极大地推动了与听力损失等各种疾病相关的基因和变异的发现。在这项研究中，我们的目标是使用临床外显子组测序来确定来自叙利亚的一个家庭听力损失的具体变异。该家系中的先证者表现出纯音听力图结果所示的严重耳聋。通过 NGS 获得的不同变体的分析显示， 基因内存在无义突变。通过 Sanger 测序，我们验证了该变体与疾病共分离，并且不存在于对照人群中。此外，我们对所有报道的与耳聋相关的 突变及其相关表型进行了全面综述。此外，我们还致力于对 和 基因进行比较分析，目的是确定可能解释这两个基因之间突变频率显著差异的潜在因素。
