دورية أكاديمية
Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.
| العنوان: | Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. |
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| المساهمون: | College of Medicine, Dept. of Anatomy, Borum Sagong, Jeong-In Baek, Jinwoong Bok, Kyu-Yup Lee, Un-Kyung Kim, Bok, Jin Woong |
| بيانات النشر: | Elsevier Scientific Publishers Ireland |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adolescent, Asian Continental Ancestry Group/genetics, Codon, Nonsense, Computational Biology, DNA Mutational Analysis, Female, Hearing Loss, Sensorineural/genetics, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Membrane Proteins/genetics, Pedigree, Pseudogenes/genetics, Republic of Korea, DFNB16, STRC, Stereocilin, Targeted sequencing |
| الوصف: | Hereditary hearing loss is a heterogeneous disorder that results in a common sensorineural disorder. To date, more than 150 loci and 89 genes have been reported for non-syndromic hearing loss. Next generation sequencing has recently been developed as a powerful genetic strategy for identifying pathogenic mutations in heterogeneous disorders with various causative genes. In this study, we performed targeted sequencing to identify the causative mutation in a Korean family that had moderate hearing loss. We targeted 64 genes associated with non-syndromic hearing loss and sorted the homozygous variations according to the autosomal recessive inheritance pattern of the family. Implementing a bioinformatic platform for filtering and detecting variations allowed for the identification of two variations within different genes (c.650G>A in TRIOBP and c.4057C>T in STRC). These variants were selected for further analysis. Among these, c.4057C>T (p.Q1353X) was a divergent sequence variation between the STRC gene and the STRC pseudogene. This was the critical difference that resulted in loss of the protein-coding ability of the pseudogene. Therefore, we hypothesized that the p.Q1353X variation in the STRC gene is the causative mutation for hearing loss. This result suggests that application of targeted sequencing will be valuable for the diagnosis of heterogeneous disorders. ; restriction |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 78~81 |
| اللغة: | English |
| تدمد: | 0165-5876 1872-8464 |
| العلاقة: | INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY; J01148; OAK-2016-03137; https://ir.ymlib.yonsei.ac.kr/handle/22282913/147089Test; http://www.sciencedirect.com/science/article/pii/S0165587615005984Test; T201602071; INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, Vol.80 : 78-81, 2016 |
| DOI: | 10.1016/j.ijporl.2015.11.018 |
| الإتاحة: | https://doi.org/10.1016/j.ijporl.2015.11.018Test https://ir.ymlib.yonsei.ac.kr/handle/22282913/147089Test http://www.sciencedirect.com/science/article/pii/S0165587615005984Test |
| حقوق: | CC BY-NC-ND 2.0 KR ; https://creativecommons.org/licenses/by-nc-nd/2.0/krTest/ |
| رقم الانضمام: | edsbas.21C781FD |
| قاعدة البيانات: | BASE |
| تدمد: | 01655876 18728464 |
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| DOI: | 10.1016/j.ijporl.2015.11.018 |