Lezirovitz Karina, Mingroni-Netto Regina Célia
Laboratório de Otorrinolaringologia/LIM32, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP, Brazil.
Departamento de Genética e Biologia Evolutiva, Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Hum Genet. 2022 Apr;141(3-4):539-581. doi: 10.1007/s00439-021-02354-4. Epub 2021 Oct 15.
Latin America comprises all countries from South and Central America, in addition to Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic profiles regarding the geographical origin of the ancestors and proportions of admixture between the Native American, European and African components. In the first years following the findings of the role of the GJB2/GJB6 genes in the etiology of hearing loss, most scientific investigations about the genetics of hearing loss in Latin America focused on assessing the frequencies of pathogenic variants in these genes. More recently, modern techniques allowed researchers in Latin America to make exciting contributions to the finding of new candidate genes, novel mechanisms of inheritance in previously known genes, and characterize a wide diversity of variants, many of them unique to Latin America. This review aimed to provide a general landscape of the genetic studies about non-syndromic hearing loss in Latin America and their main scientific contributions. It allows the conclusion that, although there are similar contributions of some genes, such as GJB2/GJB6, when compared to European and North American countries, Latin American populations revealed some peculiarities that indicate the need for tailored strategies of screening and diagnosis to specific geographic regions.
拉丁美洲包括南美洲、中美洲的所有国家以及墨西哥。其特点是各地区情况复杂多样，就祖先的地理起源以及美洲原住民、欧洲和非洲成分之间的混合比例而言，遗传特征各不相同。在发现GJB2/GJB6基因在听力损失病因中的作用后的最初几年里，拉丁美洲关于听力损失遗传学的大多数科学研究都集中在评估这些基因中致病变异的频率上。最近，现代技术使拉丁美洲的研究人员能够为发现新的候选基因、已知基因的新遗传机制以及鉴定各种各样的变异做出令人兴奋的贡献，其中许多变异是拉丁美洲特有的。这篇综述旨在概述拉丁美洲关于非综合征性听力损失的遗传学研究及其主要科学贡献。由此可以得出结论，尽管与欧洲和北美国家相比，某些基因（如GJB2/GJB6）有类似的贡献，但拉丁美洲人群显示出一些独特之处，这表明需要针对特定地理区域制定量身定制的筛查和诊断策略。
