Abstract

TORRE-GONZALEZ, Carlos de la et al. Congenital hearing loss: a literature review of the genetic etiology in a Mexican population. Bol. Med. Hosp. Infant. Mex. [online]. 2022, vol.79, n.4, pp.206-214.  Epub Sep 28, 2022. ISSN 1665-1146.  https://doi.org/10.24875/bmhim.21000186.

Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss of genetic origin in the Mexican population. We identified eight reports that showed that the pathogenic variants most frequently associated with hearing loss are related to the GJB2 gene, although in a low percentage (3%). Other mutations were identified in the GJB6, SLC26A4, or CHD23 genes. On this basis, a possible diagnostic strategy in Mexican patients with hearing loss is to consider an initial screening of these three genes. If these genes were negative for pathogenic variants, the following steps would be to consider second-generation sequencing analysis focused on panels of genes associated with hearing loss, isolated or syndromic, and if necessary, to perform exome or whole-genome analysis. Establishing an etiologic cause is critical in clinically evaluating patients with congenital hearing loss and their families. It can help determine rehabilitation strategies, such as hearing aids or cochlear implants and provide information on disease progression and genetic counseling in this population.

Keywords : Congenital hearing loss; Congenital deafness; Mexican population; GJB2; GJB6.