Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
المؤلفون المشاركون
Guo, Chang
Huang, Sha-Sha
Kang, Dong-Yang
Dai, Pu
Zhou, Ying
Yuan, Yong-Yi
Yang, Su-Yan
Gao, Xue
Wang, Ning
Zhang, Xin
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-11، 11ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-08-01
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الملخص EN
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Guo, Chang& Huang, Sha-Sha& Yuan, Yong-Yi& Zhou, Ying& Wang, Ning& Kang, Dong-Yang…[et al.]. 2020. Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation. Neural Plasticity،Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1202909
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Guo, Chang…[et al.]. Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation. Neural Plasticity No. 2020 (2020), pp.1-11.
https://search.emarefa.net/detail/BIM-1202909
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Guo, Chang& Huang, Sha-Sha& Yuan, Yong-Yi& Zhou, Ying& Wang, Ning& Kang, Dong-Yang…[et al.]. Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation. Neural Plasticity. 2020. Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1202909
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1202909
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر