However, in Brazil, environmentalįactors outweigh those of genetic origin ( 3, 4).Ĭonsidering that improvements are being implemented in the health Hearing impairment result from genetic causes ( 2). In developed countries, >60% of all cases of High-intensity sound, acoustic trauma, infections and ototoxicĭrugs, among others, genetic factors are caused by mutations inĭifferent genes or regulatory elements involved in the properĭevelopment, structure and function of the ear ( 1). Whereas environmental factors include exposure to frequent In humans it is caused by a variety of genetic and environmentalįactors. Hearing loss is the most prevalent sensory disease Studying the genetic basis of auditory neuropathy is of utmost importance for obtaining a differential diagnosis, developing more specific treatments and more accurate genetic counseling. Additionally, OTOF gene mutations were tracked by complete sequencing of 48 exons, although these results are still preliminary. Genetic alterations were investigated in 47 patients with hearing loss and clinical diagnosis of auditory neuropathy, and the c.35delG mutation in the GJB2 gene was identified in three homozygous patients, and the heterozygous parents of one of these cases. Thus, the present study aimed to investigate molecular changes in the OTOF gene in patients with auditory neuropathy, and to develop a DNA chip for the molecular diagnosis of auditory neuropathy using mass spectrometry for genotyping. The identification of genetic alterations responsible for auditory neuropathy is one of the challenges contributing to understand the molecular bases of the different phenotypes of hearing loss. In excess of 80 pathogenic mutations have been identified in individuals with non‑syndromic deafness in populations of different origins, with an emphasis on the p.Q829X mutation, which was found in ~3% of cases of deafness in the Spanish population. OTOF gene mutations exert a significant role in auditory neuropathy. Furthermore, mutations of connexin 26 have also been associated with the disease. At present, four loci associated with non‑syndromic auditory neuropathy have been mapped: Autosomal recessive deafness‑9 and autosomal recessive deafness‑59, associated with autosomal recessive inheritance the autosomal dominant auditory neuropathy gene and AUNX1, linked to chromosome X. It is characterized by the absence or alteration of waves in the examination of brainstem auditory evoked potentials, with otoacoustic and/or cochlear microphonic issues. Auditory neuropathy is a type of hearing loss that constitutes a change in the conduct of the auditory stimulus by the involvement of inner hair cells or auditory nerve synapses.
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