Hereditary hearing impairment (HI) is a heterogeneous condition with over 130 genes associated with genetic non-syndromic HI (NSHI) and Usher syndrome (USH). Approximately 80% of hereditary NSHI cases have autosomal recessive (AR) mode of inheritance. The high rate of consanguinity and endogamy in the Maghreb countries, including Tunisia, Algeria and Morocco, represents a major contributing factor to the development of ARHI. Since the 90s, those populations, with their particular large familiar structure, represented an effective key towards the discovery of the first HI loci and genes. In this study, we performed a deep literature database search to analyze the mutational spectrum and the distribution of pathogenic variants responsible of USH and the NSHI among those populations. To date, 124 pathogenic variants were identified in 32 genes of which over 70% represent population-specific variants. The particular variants’ distribution is related to the high rate of consanguinity as well as the multiple shared features such as demographic history of migrations and social behavior that promoted the spreading of several founder mutations within those countries. This is the first study to report lessons from the past and current actualities of HI within the three Maghreb countries. However, despite the great impact placed by such population for the HI genetic studies, only a few next-generation sequencing platforms have so far been implemented with those countries. We, therefore, believe that those countries should be supported to implement this technology that would definitely be of great value in the discovery of additional novel HI genes/variants.

遗传性听力障碍 (HI) 是一种异质性疾病，有超过 130 个基因与遗传性非综合征 HI (NSHI) 和 Usher 综合征 (USH) 相关。大约 80% 的遗传性 NSHI 病例具有常染色体隐性 (AR) 遗传模式。包括突尼斯、阿尔及利亚和摩洛哥在内的马格里布国家的高血缘和内婚率是促进 ARHI 发展的主要因素。自上世纪 90 年代以来，这些具有特别大的熟悉结构的种群代表了发现第一个 HI 基因座和基因的有效关键。在这项研究中，我们进行了深入的文献数据库搜索，以分析突变谱和这些人群中负责 USH 和 NSHI 的致病变异的分布。迄今为止，在 32 个基因中鉴定出 124 个致病变异，其中超过 70% 代表人群特异性变异。特定变体的分布与高血缘关系以及多种共同特征有关，例如移民的人口历史和社会行为，这些特征促进了这些国家内几个创始人突变的传播。这是第一个报告三个马格里布国家过去和当前 HI 现状的经验教训的研究。然而，尽管这些人群对 HI 基因研究产生了巨大影响，但迄今为止，这些国家只实施了少数下一代测序平台。因此，我们，