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听力损失:遗传检测、当前进展及拉丁美洲情况。

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America.

机构信息

Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires C1428EHA, Argentina.

Department of Clinical Pediatrics, Hospital Italiano de Buenos Aires, Instituto Universitario Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina.

出版信息

Genes (Basel). 2024 Jan 29;15(2):178. doi: 10.3390/genes15020178.

Abstract

Congenital hearing loss is the most common birth defect, estimated to affect 2-3 in every 1000 births, with ~50-60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the / genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome.

摘要

先天性听力损失是最常见的出生缺陷,据估计,每 1000 名新生儿中就有 2-3 名受到影响,其中约 50-60%与遗传原因有关。技术进步使得数百个与听力损失(HL)相关的基因得以被识别,这对患者、他们的家庭和社区都具有重要意义。尽管取得了这些进展,但在拉丁美洲,听力损失人群的诊断仍然不足,大多数研究都集中在一个单一的基因座上,涵盖了 / 基因。在这里,我们讨论了当前和新兴的遗传知识如何有可能改变对听力损失的诊断和管理方法,这也是拉丁美洲目前的情况,以及仍然需要克服的障碍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9554/10888486/ea257f1e735c/genes-15-00178-g001.jpg

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