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Hearing Disorders: HELP
Articles by Siqing Chen
Based on 4 articles published since 2010
(Why 4 articles?)
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Between 2010 and 2020, Siqi Chen wrote the following 4 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 2016

Chen, Siqi / Dong, Cheng / Wang, Qi / Zhong, Zhen / Qi, Yu / Ke, Xiaomei / Liu, Yuhe. ·1 Department of Otolaryngology Head and Neck Surgery, Peking University First Hospital , Beijing, China . · 2 Laboratory Center, Peking University First Hospital , Beijing, China . ·Genet Test Mol Biomarkers · Pubmed #27610647.

ABSTRACT: AIMS: We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing (NGS). MATERIALS AND METHODS: The entire length of the genes GJB2, SLC26A4, and GJB3, as well as exons of 57 additional candidate genes were sequenced from 116 individuals suffering from hearing loss. RESULTS: Thirty potentially causative mutations from these 60 genes were identified as the likely etiologies of hearing loss in 67 of the cases. In our study, SLC26A4 and GJB2 were the most frequently affected genes among the Chinese Han population with hearing loss. Collectively, they account for 52.8% of the cases, followed by MTRNR1, PCDH15, and TECTA. These data also illustrate that NGS can be used to identify rare alleles responsible for hereditary hearing loss: 22 of the 30 (73.3%) genes identified with mutations are rarely mutated in hereditary hearing loss and only account for 21.5% (42/195) of the total mutation frequency, explaining no more than 2% for each gene. These rarely mutated genes would be missed by conventional diagnostic sequencing approaches. CONCLUSIONS: NGS can be used effectively to identify both the common and rare genes causing hereditary hearing loss.

2 Article A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs. 2016

Chen, Lei / Guo, Weiwei / Ren, Lili / Yang, Mingyao / Zhao, Yaofeng / Guo, Zongyi / Yi, Haijin / Li, Mingzhou / Hu, Yiqing / Long, Xi / Sun, Boyuan / Li, Jinxiu / Zhai, Suoqiang / Zhang, Tinghuan / Tian, Shilin / Meng, Qingyong / Yu, Ning / Zhu, Dan / Tang, Guoqing / Tang, Qianzi / Ren, Liming / Liu, Ke / Zhang, Shihua / Che, Tiandong / Yu, Zhengquan / Wu, Nan / Jing, Lan / Zhang, Ran / Cong, Tao / Chen, Siqing / Zhao, Yiqiang / Zhang, Yue / Bai, Xiaoqing / Guo, Ying / Zhao, Lidong / Zhang, Fengming / Zhao, Hui / Zhang, Liang / Hou, Zhaohui / Zhao, Jiugang / Li, Jianan / Zhang, Lijuan / Sun, Wei / Zou, Xiangang / Wang, Tao / Ge, Liangpeng / Liu, Zuohua / Hu, Xiaoxiang / Wang, Jingyong / Yang, Shiming / Li, Ning. ·State Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China. · Key Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China. · Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. · Institute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China. · Department of Communicative Disorders and Sciences, Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York, USA. · Key Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China. kingyou@vip.sina.com. · Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. yangsm301@263.net. · State Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China. ninglcau@cau.edu.cn. ·BMC Biol · Pubmed #27349893.

ABSTRACT: BACKGROUND: Genesis of novel gene regulatory modules is largely responsible for morphological and functional evolution. De novo generation of novel cis-regulatory elements (CREs) is much rarer than genomic events that alter existing CREs such as transposition, promoter switching or co-option. Only one case of de novo generation has been reported to date, in fish and without involvement of phenotype alteration. Yet, this event likely occurs in other animals and helps drive genetic/phenotypic variation. RESULTS: Using a porcine model of spontaneous hearing loss not previously characterized we performed gene mapping and mutation screening to determine the genetic foundation of the phenotype. We identified a mutation in the non-regulatory region of the melanocyte-specific promoter of microphthalmia-associated transcription factor (MITF) gene that generated a novel silencer. The consequent elimination of expression of the MITF-M isoform led to early degeneration of the intermediate cells of the cochlear stria vascularis and profound hearing loss, as well as depigmentation, all of which resemble the typical phenotype of Waardenburg syndrome in humans. The mutation exclusively affected MITF-M and no other isoforms. The essential function of Mitf-m in hearing development was further validated using a knock-out mouse model. CONCLUSIONS: Elimination of the MITF-M isoform alone is sufficient to cause deafness and depigmentation. To our knowledge, this study provides the first evidence of a de novo CRE in mammals that produces a systemic functional effect.

3 Article Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 2015

Gao, Juanjuan / Wang, Qi / Dong, Cheng / Chen, Siqi / Qi, Yu / Liu, Yuhe. ·Department of Otolaryngology, Head and Neck Surgery, Peking University First Hospital, Beijing, China. · Department of central laboratory, Peking University First Hospital, Beijing, China. ·PLoS One · Pubmed #26196677.

ABSTRACT: We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of eukaryotic genome replication. This missense variant is very likely to be the disease causing variant. It segregated with hearing loss in this pedigree, and was not found in the dbSNP database or databases of genomes and SNP in the Chinese population, in 76 patients with sporadic hearing loss, or in 145 normal individuals. We performed western blot and immunofluorescence to test the MCM2 protein expression in the cochlea of rats and guinea pigs, demonstrating that MCM2 was widely expressed in the cochlea and was also surprisingly expressed in the cytoplasm of terminally differentiated hair cells. We then transiently expressed the variant MCM2 cDNA in HEK293 cells, and found that these cells displayed a slight increase in apoptosis without any changes in proliferation or cell cycle, supporting the view that this variant is pathogenic. In summary, we have identified MCM2 as a novel gene responsible for nonsyndromic hearing loss of autosomal dominant inheritance in a Chinese family.

4 Article [Analysis of the clinical audiological characteristics in 92 Chinese Alport syndrome cases]. 2014

Chen, Li / Xue, Junfang / Zhang, Yanqin / Wang, Fang / Chen, Siqi / Duan, Jibo / Liu, Yuhe / Ding, Jie. ·Department of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China. · Email: liuyuhefeng@163.com. ·Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #25598368.

ABSTRACT: OBJECTIVE: To analyze the clinical audiological characteristics in Chinese Alport syndrome, and investigate the relationship between the genotypes of Alport syndrome and hearing phenotype. METHODS: The clinical hearing data of 92 cases diagnosed as Alport syndrome from 2008 August to 2013 August were reviewed and analyzed. All coding exons of COL4A3 and COL4A5 genes were PCR-amplified and sequenced from genomic DNA, or mRNA of COL4A5 gene was RT-PCR-amplified and sequenced from skin fibroblast in 17 cases. RESULTS: Eighty-seven out of 92 cases were found with X-linked dominant inheritance (XLAS); 5 cases with autosomal recessive (ARAS); 44 cases had normal hearing, but 14 young cases had abnormal OAE; 48 cases (52.2%, 35 male, 13 female) had sensorineural hearing loss. A total of 44 cases with XLAS had hearing loss (49.4%), wherein the incidence of hearing impairment was 55.0% in male XLAS, and 37.0% in female XLAS. Mild and moderate hearing loss were found in XLAS. Audiometric curves including groove type (21 cases), descending type (13 cases), flat type (10 cases), high frequency drop type (3 cases) and ascending type (1 case) were found in AS. Sixteen mutations of COL4A3, COL4A5 gene were found in 17 cases with Alport syndrome, including severe mutation in 8 cases with moderate hearing impairment. CONCLUSIONS: Mild and moderate hearing impairment, and groove type of audiometric curve are mainly found in Chinese Alport syndrome, which is different from Alport syndrome in western countries. OAE in the early diagnosis of hearing loss is important. Hearing phenotype is related certainly with genotype.