Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family
المؤلفون المشاركون
Peng, Hu
Lin, Yun
Xu, Jun
Wang, Longhao
Yang, Tao
Wu, Hao
Zhao, Lin
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-06-15
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Hearing loss is a highly heterogeneous disorder, with more than 60% of congenital cases caused by genetic factors.
This study is aimed at identifying the genetic cause of congenital hearing loss in a Chinese Han family.
Auditory evaluation before and after cochlear implantation and targeted next-generation sequencing of 140 deafness-related genes were performed for the deaf proband.
Compound heterozygous mutations c.3658_3662del (p.
E1221Wfs∗23) and c.6177+1G>T were identified in MYO15A as the only candidate pathogenic mutations cosegregated with the hearing loss in this family.
These two variants were absent in 200 normal-hearing Chinese Hans and were classified as likely pathogenic and pathogenic, respectively, based on the ACMG guideline.
Our study further expanded the mutation spectrum of MYO15A as the c.3658_3662del mutation is novel and confirmed that deaf patients with recessive MYO15A mutations have a good outcome for cochlear implantation.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Wang, Longhao& Zhao, Lin& Peng, Hu& Xu, Jun& Lin, Yun& Yang, Tao…[et al.]. 2020. Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family. Neural Plasticity،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1202732
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Wang, Longhao…[et al.]. Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family. Neural Plasticity No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1202732
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Wang, Longhao& Zhao, Lin& Peng, Hu& Xu, Jun& Lin, Yun& Yang, Tao…[et al.]. Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family. Neural Plasticity. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1202732
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1202732
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