Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
Hereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to heredit...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Neural Plasticity |
| Online Access: | http://dx.doi.org/10.1155/2020/8841522 |
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| author | Chang Guo Sha-Sha Huang Yong-Yi Yuan Ying Zhou Ning Wang Dong-Yang Kang Su-Yan Yang Xin Zhang Xue Gao Pu Dai |
| author_facet | Chang Guo Sha-Sha Huang Yong-Yi Yuan Ying Zhou Ning Wang Dong-Yang Kang Su-Yan Yang Xin Zhang Xue Gao Pu Dai |
| author_sort | Chang Guo |
| collection | DOAJ |
| description | Hereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. Here, we investigated the hearing phenotypes of patients with hearing loss associated with the homozygous c.235delC mutation, paying special attention to asymmetric interaural hearing loss. A total of 244 patients with the GJB2 c.235delC homozygous mutation encountered from 2007 to 2015 were enrolled. The severity of hearing loss was scaled with the American Speech-Language-Hearing Association (ASHA). Auditory phenotypes were analyzed, and three types of interaural asymmetry were defined based on audiograms: Type A (asymmetry of hearing loss severity), Type B (asymmetry of audiogram shape), and Type C (Type A plus Type B). Of the 488 ears (244 cases) examined, 71.93% (351) presented with profound hearing loss, 14.34% (70) with severe hearing loss, and 9.43% (46) with moderate to severe hearing loss. The most common audiogram shapes were descending (31.15%) and flat (24.18%). A total of 156 (63.93%) of the 244 patients exhibited asymmetric interaural hearing loss in terms of severity and/or audiogram shape. Type A was evident in 14 of these cases, Type B in 106, and Type C in 36. In addition, 211 of 312 ears (67.63%) in the interaural hearing asymmetry group showed profound hearing loss, and 59 (18.91%) exhibited severe hearing loss, with the most common audiogram shapes being flat (27.88%) and descending (22.12%). By contrast, in the interaural hearing symmetry group, profound hearing loss was observed in 140 ears (79.55%), and the most common audiograms were descending (46.59%) and residual (21.59%). Hearing loss associated with the GJB2 c.235delC homozygous mutation shows diverse phenotypes, and a considerable proportion of patients show bilateral hearing loss asymmetry. |
| format | Article |
| id | doaj-art-932833f2b91448bcadea70c03445d1ae |
| institution | Kabale University |
| issn | 2090-5904 1687-5443 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Neural Plasticity |
| spelling | doaj-art-932833f2b91448bcadea70c03445d1ae2025-02-03T05:52:43ZengWileyNeural Plasticity2090-59041687-54432020-01-01202010.1155/2020/88415228841522Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc MutationChang Guo0Sha-Sha Huang1Yong-Yi Yuan2Ying Zhou3Ning Wang4Dong-Yang Kang5Su-Yan Yang6Xin Zhang7Xue Gao8Pu Dai9College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaDepartment of Pediatric Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, ChinaHereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. Here, we investigated the hearing phenotypes of patients with hearing loss associated with the homozygous c.235delC mutation, paying special attention to asymmetric interaural hearing loss. A total of 244 patients with the GJB2 c.235delC homozygous mutation encountered from 2007 to 2015 were enrolled. The severity of hearing loss was scaled with the American Speech-Language-Hearing Association (ASHA). Auditory phenotypes were analyzed, and three types of interaural asymmetry were defined based on audiograms: Type A (asymmetry of hearing loss severity), Type B (asymmetry of audiogram shape), and Type C (Type A plus Type B). Of the 488 ears (244 cases) examined, 71.93% (351) presented with profound hearing loss, 14.34% (70) with severe hearing loss, and 9.43% (46) with moderate to severe hearing loss. The most common audiogram shapes were descending (31.15%) and flat (24.18%). A total of 156 (63.93%) of the 244 patients exhibited asymmetric interaural hearing loss in terms of severity and/or audiogram shape. Type A was evident in 14 of these cases, Type B in 106, and Type C in 36. In addition, 211 of 312 ears (67.63%) in the interaural hearing asymmetry group showed profound hearing loss, and 59 (18.91%) exhibited severe hearing loss, with the most common audiogram shapes being flat (27.88%) and descending (22.12%). By contrast, in the interaural hearing symmetry group, profound hearing loss was observed in 140 ears (79.55%), and the most common audiograms were descending (46.59%) and residual (21.59%). Hearing loss associated with the GJB2 c.235delC homozygous mutation shows diverse phenotypes, and a considerable proportion of patients show bilateral hearing loss asymmetry.http://dx.doi.org/10.1155/2020/8841522 |
| spellingShingle | Chang Guo Sha-Sha Huang Yong-Yi Yuan Ying Zhou Ning Wang Dong-Yang Kang Su-Yan Yang Xin Zhang Xue Gao Pu Dai Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation Neural Plasticity |
| title | Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation |
| title_full | Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation |
| title_fullStr | Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation |
| title_full_unstemmed | Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation |
| title_short | Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation |
| title_sort | hearing phenotypes of patients with hearing loss homozygous for the gjb2 c 235delc mutation |
| url | http://dx.doi.org/10.1155/2020/8841522 |
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