个人中心| | 帮助
高级检索
当前位置： 首页 > 详情页

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China

| 认领 | 导出 | |

文献详情

资源类型：
Pubmed体系：
作者：
Li Jingyu[1,2] * ; Zhou Shiyu[1,2] * ; Pei Jiahong[2] * ; Li Wanzhen[1,2] ; Cui Rongjie[1,2] ; Ren Xiaofei[1,2] ; Wei Jingru[1,2] ; Li Qian[2] ; Zhu Baosheng[1,2,3] ; Sa Yaliang[2] ; Li Yunlong[1,2,3] ;
机构： [1]Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China. [2]the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China. [3]National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Kunming, Yunnan, China.
出处：
DOI： 10.1016/j.heliyon.2024.e38802
ISSN：

关键词： Hearing loss Next generation sequencing Diagnostic rate Ethnicity Variants of unknown significance (VUS)

摘要：
Hearing loss is a common disease. More than 100 genes have been reported to be associated with hereditary hearing loss. However, the distribution of these genes and their variants across diverse populations remains unclear. In this study, we gathered 347 hearing-impaired patients from four language families (Sinitic, Tibeto-Burman, Kra-Dai, and Hmong-Mien) in Southwestern China, excluding cases caused by common mutations in the GJB2 gene. By using next generation sequencing, 122 genes associated with hereditary hearing loss were analyzed on these patients. Rare candidate variants were identified in 71.93 % (264/347) of patients with hearing loss. The diagnostic rate varied around 10 % across different language families. The most frequently identified causative genes in successfully diagnosed cases were SLC26A4, MYO7A and TMPRSS3. Moreover, a substantial number of variants of unknown significance (VUS) were identified in our patient cohort. This underscores the critical need for establishing ethnicity-specific genomic databases for hearing loss. It will significantly improve the clinical diagnostic rate for hearing loss in this region.© 2024 The Authors.

基金：
The present study was supported by the National Natural Science Foundation of China (82360331,81860190), Yunnan Provincial Talents Program for Top Young Talents (YNWR-QNBJ-2018-128), the Joint Special Research Funds of Kunming Medical University (2017FE468 [-010]), the Foundation of Medical Discipline Leaders Program of Health and Family Planning Commission of Yunnan Province (D-201668) and the Personnel Training Project of Yunnan Province(2017HB043).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2025]版：
大类 | 4 区 综合性期刊
小类 | 4 区 综合性期刊
最新[2025]版：
大类 | 4 区 综合性期刊
小类 | 4 区 综合性期刊
第一作者：
第一作者机构： [1]Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China. [2]the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China.
共同第一作者：
通讯作者：
通讯机构： [1]Department of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, China. [2]the Affiliated Hospital of Kunming University of Science and Technology, No.157 Jinbi Road, Kunming, 650032, Yunnan, China. [3]National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Kunming, Yunnan, China.
推荐引用方式(GB/T 7714)：
Li Jingyu,Zhou Shiyu,Pei Jiahong,et al.Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China[J].Heliyon.2024,10(20):e38802.doi:10.1016/j.heliyon.2024.e38802.
APA：
Li Jingyu,Zhou Shiyu,Pei Jiahong,Li Wanzhen,Cui Rongjie...&Li Yunlong.(2024).Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.Heliyon,10,(20)
MLA：
Li Jingyu,et al."Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China".Heliyon 10..20(2024):e38802

相关文献

[1]Clinical value of macrogenome next-generation sequencing on infections [2]下一代半导体测序技术在遗传性心肌病分子诊断中的应用 [3]Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing [4]Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies [5]Mutational Profile of Multiple Lung Cancers in Xuanwei by Next-Generation Sequencing [6]Five novel globin gene mutations identified in five Chinese families by next-generation sequencing. [7]Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan. [8]Next-generation sequencing helped diagnosis and successful treatment of an atypical severe scrub typhus patient [9]Next-generation sequencing identifies HOXA6 as a novel oncogenic gene in low grade glioma. [10]Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry

资源点击量：87845 今日访问量：0 总访问量：732 更新日期：2025-04-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 云南省第一人民医院 技术支持：重庆聚合科技有限公司 地址：云南省昆明市西山区金碧路157号