9/3/2023 0 Comments Hearing neuropathyMany authors have suggested that the abnormalities that cause AN/AD reside within the lower auditory system. 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. The term auditory neuropathy/auditory dyssynchrony (AN/AD) describes a diagnosis that affects a small group of patients with hearing loss and speech intelligibility scores out of proportion with their presumed hearing loss. Additionally, OTOF gene mutations were tracked by complete sequencing of 48 exons, although these results are still preliminary. After failing his annual medical and school hearing screenings, he was referred for audiologic testing, which identified a profound sensorineural hearing loss in his left ear that has remained stable for the past 3 1/2 years. 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. This article reports on an 11-year-old boy who was diagnosed with unilateral auditory neuropathy. 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. Audiology Resources for Patients Transitioning to Adult Care or Moving (PDF) Auditory Neuropathy Spectrum Disorder. When co-existent with peripheral neuropathy, it tends to present in the early adult years, is slowly progressive and is accompanied by optic atrophy or bowel abnormalities. 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. Sensorineural hearing loss (SNHL) is infrequently associated with peripheral neuropathy. 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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