Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations
| Autor: | Hirokazu Sakamoto, Kaoru Ogawa, Yukiko Arimoto, Shin Masuda, Noriko Morita, Tomoko Sugiuchi, Makoto Hosoya, Masahide Otsu, Noriko Morimoto, Sawako Masuda, Masato Fujioka, Atsuko Nakano, Kiyomitsu Nara, Kimitaka Kaga, Tatsuo Matsunaga |
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| Rok vydání: | 2019 |
| Předmět: |
Male
medicine.medical_specialty Genotype Hearing loss Genetic counseling Audiology Deafness Correlation 03 medical and health sciences Gjb2 gene 0302 clinical medicine Audiometry otorhinolaryngologic diseases Medicine Humans Genetic variability Sibling 030223 otorhinolaryngology Child Hearing Loss Auditory acuity business.industry Siblings Infant Auditory Threshold General Medicine Connexin 26 Otorhinolaryngology 030220 oncology & carcinogenesis Child Preschool Hearing acuity Mutation Surgery Female medicine.symptom business |
| Zdroj: | Auris, nasus, larynx. 47(6) |
| ISSN: | 1879-1476 |
| Popis: | Objective Hearing loss caused by GJB2 mutations is inherited in an autosomal recessive manner (DFNB1); thus siblings of an affected child have a 25% chance of also being affected. Hearing loss among subsequent siblings carrying the same GJB2 mutation is a concern for parents and a frequent topic of enquiry during genetic counseling. Evidence exists for genotype-phenotype correlations of GJB2 mutations; however, no analysis of differences in hearing among siblings, in whom the common genetic background may decrease variation, has been reported. The purpose of the present study was to investigate hearing differences between siblings with identical GJB2 mutations. Methods We examined the hearing levels of 12 pairs of siblings; each pair had the same pathogenic GJB2 mutations. Differences in hearing acuity between sibling pairs detected by auditory evaluation. Results No significant correlation was detected between the average hearing levels of first and second affected siblings. Average differences in acoustic threshold >30 dB were observed between four pairs of siblings, whereas the remaining eight pairs had average threshold values within 20 dB of one another. Conclusion Our results indicate that auditory acuity would be expected to approximate that found in the first child in approximately 70% of subsequent children with GJB2-mediated hearing loss, whereas 30% of subsequent siblings would have average differences of >30 dB. |
| Databáze: | OpenAIRE |
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