Screening mutations of otof gene in chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy
文献类型：期刊论文
| 作者 | Wang, Da-Yong1; Wang, Yi-Chen2,3; Weil, Dominique9; Zhao, Ya-Li7,8; Rao, Shao-Qi6; Zong, Liang1; Ji, Yu-Bin1; Liu, Qiong1; Li, Jian-Qiang1; Yang, Huan-Ming2,3 |
| 刊名 | Bmc medical genetics
 |
| 出版日期 | 2010-05-26 |
| 卷号 | 11页码:7 |
| ISSN号 | 1471-2350 |
| DOI | 10.1186/1471-2350-11-79 |
| 通讯作者 | Wang, qiu-ju(wqcr@263.net) |
| 英文摘要 | Background: mutations in otof gene, encoding otoferlin, cause dfnb9 deafness and non-syndromic auditory neuropathy (an). the aim of this study is to identify otof mutations in chinese patients with non-syndromic auditory neuropathy. methods: 73 unrelated chinese han patients with an, including one case of temperature sensitive non-syndromic auditory neuropathy (ts-nsran) and 92 ethnicity-matched controls with normal hearing were screened. forty-five pairs of pcr primers were designed to amplify all of the exons and their flanking regions of the otof gene. the pcr products were sequenced and analyzed for mutation identification. results: five novel possibly pathogenic variants (c. 1740delc, c. 2975_2978delag, c. 1194t > a, c. 1780g > a, c. 4819c > t) were identified in the group of 73 an patients, in which two novel mutant alleles (c.2975_2978delag + c.4819c > t) were identified in one chinese ts-nsran case. besides, 10 non-pathogenic variants of the otof gene were found in an patients and controls. conclusions: screening revealed that mutations in the otof gene account for an in 4 of 73(5.5%) sporadic an patients, which shows a lower genetic load of that gene in contrast to the previous studies based on other populations. notably, we found two novel mutant alleles related to temperature sensitive non-syndromic auditory neuropathy. this mutation screening study further confirms that the otof gene contributes to ans and to ts-nsran. |
| WOS关键词 | RECESSIVE DEAFNESS ; HEARING-LOSS ; ENCODING OTOFERLIN ; DFNB9 ; IMPAIRMENT ; FORM ; PROTEIN ; DOMAIN ; MAPS |
| WOS研究方向 | Genetics & Heredity |
| WOS类目 | Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000279920200001 |
| 出版者 | BIOMED CENTRAL LTD |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2407481 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Wang, Qiu-Ju |
| 作者单位 | 1.Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Dept Otolaryngol Head & Neck Surg, Beijing 100853, Peoples R China 2.Chinese Acad Sci, Beijing Inst Genom, Beijing 100029, Peoples R China 3.Chinese Acad Sci, China Grad Univ, Beijing 100049, Peoples R China 4.Chinese Natl Human Genome Ctr, Beijing 100176, Peoples R China 5.Case Western Reserve Univ, Dept Otolaryngol HNS, Cleveland, OH 44106 USA 6.Sun Yat Sen Univ, Sch Publ Hlth, Dept Med Stat & Epidemiol, Guangzhou 510080, Guangdong, Peoples R China 7.Chinese Acad Med Sci, Inst Basic Med Sci, Dept Biochem & Mol Biol, Beijing 100730, Peoples R China 8.Peking Union Med Coll, Beijing 100021, Peoples R China 9.Inst Pasteur, INSERM, U587, Unite Genet & Physiol Audit, F-75724 Paris 15, France |
| 推荐引用方式 GB/T 7714 | Wang, Da-Yong,Wang, Yi-Chen,Weil, Dominique,et al. Screening mutations of otof gene in chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy[J]. Bmc medical genetics,2010,11:7. |
| APA | Wang, Da-Yong.,Wang, Yi-Chen.,Weil, Dominique.,Zhao, Ya-Li.,Rao, Shao-Qi.,...&Wang, Qiu-Ju.(2010).Screening mutations of otof gene in chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.Bmc medical genetics,11,7. |
| MLA | Wang, Da-Yong,et al."Screening mutations of otof gene in chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy".Bmc medical genetics 11(2010):7. |
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来源：中国科学院大学
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