Analysis of mitochondrial 12S rRNA A1555G genetic mutation in group of Egyptian children with non-syndromic hearing loss: cross-sectional observational study
Abstract Background Hearing loss is a multifactorial condition with the etiology of hereditary and/or environmental factors, which leads to various degrees of hearing impairment. One of the most common mutations associated with aminoglycoside-induced non-syndromic hearing impairment in the mitochond...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-05-01
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| Series: | The Egyptian Journal of Otolaryngology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43163-025-00839-x |
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| Summary: | Abstract Background Hearing loss is a multifactorial condition with the etiology of hereditary and/or environmental factors, which leads to various degrees of hearing impairment. One of the most common mutations associated with aminoglycoside-induced non-syndromic hearing impairment in the mitochondrial 12S ribosomal RNA gene is the A1555G mutation, which has been reported in several ethnic groups. Hereditary hearing impairment is very common in the Arab community. As far as we know, the frequency of the A1555G mutation in the Egyptian population has not been extensively documented. This study aimed to investigate the presence of the mitochondrial A1555G mutation in Egyptian children diagnosed with non-syndromic sensorineural hearing loss, to provide insight into its possible contribution to hearing impairment in this population. Material and methods A cross-sectional observational study was conducted on 30 Egyptian children (aged 9 months to 12 years) with confirmed non-syndromic sensorineural hearing loss. Detailed clinical histories, three-generation pedigrees, and comprehensive audiological assessments (tympanometry, auditory brainstem response, and/or pure-tone audiometry) were performed. The A1555G mutation was screened using the PCR–RFLP method. Results The current study’s findings showed that only one patient (3.3%) is positive for the A1555G mutation. The ages of selected children ranged between 9 months and 12 years with a mean age of 5.9 years. All cases had bilateral severe or profound sensorineural hearing loss at the high frequencies (2–4 kHz). Conclusion This pilot study identified the mitochondrial A1555G mutation in only 1 case among 30 Egyptian children with non-syndromic sensorineural hearing loss, suggesting a potential, though limited, role of this mutation in the studied population. Broader studies are recommended to better understand its prevalence and clinical significance. |
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| ISSN: | 2090-8539 |