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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
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