Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
المؤلفون المشاركون
Gao, Xue
Xu, Jin-Cao
Yuan, Yong-Yi
Bai, Dan
Huang, Sha-Sha
Wang, Guo-Jian
Kang, Dong-Yang
Zhang, Mei-Guang
Dai, Pu
Gu, Ping
Han, Ming-Yu
Li, Jia
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-06-13
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Hereditary hearing loss is characterized by a high degree of genetic heterogeneity.
Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness.
In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family.
To evaluate the importance of TMPRSS3 mutations in recessive deafness among the Chinese, we screened 150 autosomal recessive nonsyndromic hearing loss (ARNSHL) families and identified 6 that carried seven causative TMPRSS3 mutations, including five novel mutations (c.809T>A, c.1151T>G, c.1204G>A, c.1244T>C, and c.1250G>A) and two previously reported mutations (c.323-6G>A and c.916G>A).
Each of the five novel mutations was classified as severe, by both age of onset and severity of hearing loss.
Together with our previous study, six families were found to share one pathogenic mutation (c.916G>A, p.Ala306Thr).
To determine whether this mutation arose from a common ancestor, we analyzed six short tandem repeat (STR) markers spanning the TMPRSS3 gene.
In four families, we observed linkage disequilibrium between p.Ala306Thr and STR markers.
Our results indicate that mutations in TMPRSS3 account for about 4.6% (7/151) of Chinese ARNSHL cases lacking mutations in SLC26A4 or GJB2 and that the recurrent TMPRSS3 mutation p.Ala306Thr is likely to be a founder mutation.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Gao, Xue& Huang, Sha-Sha& Yuan, Yong-Yi& Xu, Jin-Cao& Gu, Ping& Bai, Dan…[et al.]. 2017. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. Neural Plasticity،Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1192952
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Gao, Xue…[et al.]. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. Neural Plasticity No. 2017 (2017), pp.1-8.
https://search.emarefa.net/detail/BIM-1192952
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Gao, Xue& Huang, Sha-Sha& Yuan, Yong-Yi& Xu, Jin-Cao& Gu, Ping& Bai, Dan…[et al.]. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. Neural Plasticity. 2017. Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1192952
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1192952
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