de Oliveira Camila Andréa, Alexandrino Fabiana, Christiani Thalita Vitachi, Steiner Carlos Eduardo, Cunha José Luiz Rosemberis, Guerra Andréa Trevas Maciel, Sartorato Edi Lúcia
Centro de Biologia Molecular e Engenharia Genética/CBMEG, Laboratório de Genética Humana, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil.
Am J Med Genet A. 2007 Jul 15;143A(14):1574-9. doi: 10.1002/ajmg.a.31838.
Hereditary hearing loss is a complex disorder that involves a large number of genes. In developed countries, 1 in 1,000 children is born with deafness severe enough to require special education services, and about 60% of the cases of isolated deafness have a genetic origin. Although more than 100 genes for hearing loss are known currently, only a few are routinely tested in the clinical practice. In this study, we present our findings from the molecular diagnostic screening of the GJB2 and GJB3 genes, del(GJB6-D13S1,830) and del(GJB6-D13S1,854) deletions in the GJB6 gene, Q829X mutation in the otoferlin gene (OTOF) and, the A1,555G and A7,445G mutations in the mitochondrial genome over an 8-year period. Mutations analysis in the previously mentioned genes and mutations was performed on 645 unrelated Brazilian patients with hearing loss who fell into two different testing groups. Different mutations in the GJB2 gene were responsible for most of cases studied, but deletions in the GJB6 gene as well as mitochondrial mutations were also found. While most cases of hearing loss in this country are due to environmental factors, the genetic etiology of deafness will increasingly be determined as more genetic tests become available.
遗传性听力损失是一种涉及大量基因的复杂疾病。在发达国家，每1000名儿童中就有1名出生时患有严重到需要特殊教育服务的耳聋，并且约60%的散发性耳聋病例有遗传根源。尽管目前已知100多个与听力损失相关的基因，但在临床实践中只有少数基因会进行常规检测。在本研究中，我们展示了对GJB2和GJB3基因、GJB6基因中的del(GJB6-D13S1,830)和del(GJB6-D13S1,854)缺失、耳铁蛋白基因（OTOF）中的Q829X突变以及线粒体基因组中的A1,555G和A7,445G突变进行为期8年的分子诊断筛查的结果。对645名患有听力损失的巴西非亲属患者进行了上述基因和突变的分析，这些患者分为两个不同的检测组。GJB2基因中的不同突变是大多数研究病例的病因，但也发现了GJB6基因的缺失以及线粒体突变。虽然该国大多数听力损失病例是由环境因素导致的，但随着更多基因检测方法的出现，耳聋的遗传病因将越来越多地被确定。
