Serum connexin 26 as a potential marker of non-syndromic hearing loss
Abstract Background Hearing loss (HL) represents the most common form of sensory impairment in both children and adults. In children, genetic causes account for over 50%. The genetic causes of HL include multiple syndromes associated with HL. In non-syndromic hearing loss (NSHL), patients have only...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2025-01-01
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| Series: | The Egyptian Journal of Otolaryngology |
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| Online Access: | https://doi.org/10.1186/s43163-025-00755-0 |
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| author | Hend M. Moness Noha M. Abdullah Doaa El Amrousy Reham Gamal Hatem A. Mohamed Mohammed A. Gomaa Shaimaa Moustafa Hafez Zamzam Hassan Mohamed |
| author_facet | Hend M. Moness Noha M. Abdullah Doaa El Amrousy Reham Gamal Hatem A. Mohamed Mohammed A. Gomaa Shaimaa Moustafa Hafez Zamzam Hassan Mohamed |
| author_sort | Hend M. Moness |
| collection | DOAJ |
| description | Abstract Background Hearing loss (HL) represents the most common form of sensory impairment in both children and adults. In children, genetic causes account for over 50%. The genetic causes of HL include multiple syndromes associated with HL. In non-syndromic hearing loss (NSHL), patients have only hearing impairment or loss. 35delG, 167delT are common mutations that lead to severe HL. The prevalence of these mutations varies according to region, population characteristics, and within the same region according to the genetic pools. There is currently no approval for laboratory investigations to diagnose non-syndromic hearing loss (NSHL) except few studies that are based on expensive genetic tests. This study evaluates the value of connexin 26 as a screening test for NSHL. Methods One hundred forty children participated in our study; they were divided into two groups. Seventy children with NSHL and 70 children as control group. All children were subjected to Audiometry, measurement frequency of 35delG, 167delT by PCR–RFLP, and connexin26 level by ELISA. Results We found that the connexin 26 level by ELISA was significantly lower in patients compared to controls (p = 0.0001). In addition, there was a significant negative correlation between connexin 26 levels and the degree of hearing loss by audiometry (r = − 0.403, p < 0.0001). In ROC curve analysis, serum levels of connexin 26 have sensitivity (94.3%) and specificity (100%). Measuring of connexin 26 by ELISA is more sensitive and specific than 35 del G mutation where sensitivity was 11.45 and 5.7% for both hetero and homo mutation. Conclusion Serum connexin 26 could be used as a good diagnostic marker to detect NSHL in children. It could be used as a potential marker for NSHL in newborns as it is more rapid and easily available than genetic study, especially in developing countries. |
| format | Article |
| id | doaj-art-1839af6ead5c42a59196ff77fb449044 |
| institution | Kabale University |
| issn | 2090-8539 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | The Egyptian Journal of Otolaryngology |
| spelling | doaj-art-1839af6ead5c42a59196ff77fb4490442025-01-26T12:12:30ZengSpringerOpenThe Egyptian Journal of Otolaryngology2090-85392025-01-014111710.1186/s43163-025-00755-0Serum connexin 26 as a potential marker of non-syndromic hearing lossHend M. Moness0Noha M. Abdullah1Doaa El Amrousy2Reham Gamal3Hatem A. Mohamed4Mohammed A. Gomaa5Shaimaa Moustafa Hafez6Zamzam Hassan Mohamed7Clinical Pathology Department, Faculty of Medicine, Minia UniversityClinical Pathology Department, Faculty of Medicine, Minia UniversityPediatric Department, Faculty of Medicine, Tanta UniversityAudio-Vestibular Unit, Minia UniversityBiochemistry Department, Faculty of Medicine, Minia UniversityOtorhinolaryngology Department, Faculty of Medicine, Minia UniversityPublic Health and Preventive Medicine Department, Faculty of Medicine, Minia UniversityPediatric Department, Faculty of Medicine, Minia UniversityAbstract Background Hearing loss (HL) represents the most common form of sensory impairment in both children and adults. In children, genetic causes account for over 50%. The genetic causes of HL include multiple syndromes associated with HL. In non-syndromic hearing loss (NSHL), patients have only hearing impairment or loss. 35delG, 167delT are common mutations that lead to severe HL. The prevalence of these mutations varies according to region, population characteristics, and within the same region according to the genetic pools. There is currently no approval for laboratory investigations to diagnose non-syndromic hearing loss (NSHL) except few studies that are based on expensive genetic tests. This study evaluates the value of connexin 26 as a screening test for NSHL. Methods One hundred forty children participated in our study; they were divided into two groups. Seventy children with NSHL and 70 children as control group. All children were subjected to Audiometry, measurement frequency of 35delG, 167delT by PCR–RFLP, and connexin26 level by ELISA. Results We found that the connexin 26 level by ELISA was significantly lower in patients compared to controls (p = 0.0001). In addition, there was a significant negative correlation between connexin 26 levels and the degree of hearing loss by audiometry (r = − 0.403, p < 0.0001). In ROC curve analysis, serum levels of connexin 26 have sensitivity (94.3%) and specificity (100%). Measuring of connexin 26 by ELISA is more sensitive and specific than 35 del G mutation where sensitivity was 11.45 and 5.7% for both hetero and homo mutation. Conclusion Serum connexin 26 could be used as a good diagnostic marker to detect NSHL in children. It could be used as a potential marker for NSHL in newborns as it is more rapid and easily available than genetic study, especially in developing countries.https://doi.org/10.1186/s43163-025-00755-0Connexin 26ELISA35delG167delTNSHLChildren |
| spellingShingle | Hend M. Moness Noha M. Abdullah Doaa El Amrousy Reham Gamal Hatem A. Mohamed Mohammed A. Gomaa Shaimaa Moustafa Hafez Zamzam Hassan Mohamed Serum connexin 26 as a potential marker of non-syndromic hearing loss The Egyptian Journal of Otolaryngology Connexin 26 ELISA 35delG 167delT NSHL Children |
| title | Serum connexin 26 as a potential marker of non-syndromic hearing loss |
| title_full | Serum connexin 26 as a potential marker of non-syndromic hearing loss |
| title_fullStr | Serum connexin 26 as a potential marker of non-syndromic hearing loss |
| title_full_unstemmed | Serum connexin 26 as a potential marker of non-syndromic hearing loss |
| title_short | Serum connexin 26 as a potential marker of non-syndromic hearing loss |
| title_sort | serum connexin 26 as a potential marker of non syndromic hearing loss |
| topic | Connexin 26 ELISA 35delG 167delT NSHL Children |
| url | https://doi.org/10.1186/s43163-025-00755-0 |
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