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Hearing Disorders: HELP
Articles by Li Wang
Based on 11 articles published since 2010
(Why 11 articles?)
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Between 2010 and 2020, Li Wang wrote the following 11 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Review Understanding auditory neuropathy spectrum disorder: a systematic review in transgenic mouse models. 2016

Wang, Li / Guan, Jing / Wang, Hongyang / Lan, Lan / Zhang, Qiujing / Zong, Liang / Du, Wan / Xiong, Wenping / Li, Fengjiao / Wu, Kaiwen / Wang, Dayong / Wang, Qiuju. ·Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China. · Medical College, Nankai University, Tianjin, 300071, China. · Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China. wqcr301@sina.com. ·Sci China Life Sci · Pubmed #26783139.

ABSTRACT: Auditory neuropathy spectrum disorder is a unique group of hearing dysfunctions characterized by preserved outer hair cell function and abnormal neural conduction of the auditory pathway. However, the pathogenic mechanism underlying this disorder is not clear. We therefore performed a systematic review of genetic mouse models with different gene mutations to provide a valuable tool for better understanding of the process and the possible molecular mechanisms. Of the 18 articles retrieved, nine met the required criteria. All biochemical, histological, and electrophysiological results were recorded for each of the mouse models, as was the transgenic technology. This review provides a summary of different mouse models that may play an important role in the diagnosis and management of auditory neuropathy spectrum disorder in the future.

2 Article Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy. 2019

Wang, Hongyang / Wang, Li / Yang, Ju / Yin, Linwei / Lan, Lan / Li, Jin / Zhang, Qiujing / Wang, Dayong / Guan, Jing / Wang, Qiuju. ·Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China. · BGI-Shenzhen, Shenzhen, 518120, China. · Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China. ggy3u@126.com. · Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China. wqcr301@vip.sina.com. ·BMC Med Genet · Pubmed #30634948.

ABSTRACT: BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which is involved in mitochondrial transport of metabolites. This study aimed to identify the pathogenic gene variations in three Chinese families associated with predicted MTS with or without X-linked agammaglobulinaemia. METHODS: Otologic examinations, vestibular, neurological, optical and other clinical evaluations were conducted on the family members. Targeted genes capture combining next generation sequencing (NGS) was performed, and then Sanger sequencing was used to confirm the causative variation. RESULTS: A novel variation, c.232_233insCAAT, in TIMM8A was identified as the pathogenic variation in one Chinese family. This variation co-segregated with the most frequent phenotypic deafness and was absent in the 1000 Genomes Project, ExAC and 1751 ethnicity-matched controls. Clinically, otological examinations illustrated the typical postsynaptic auditory neuropathy for the proband without the symptoms of dystonia or optic atrophy. MRI demonstrated abnormal small cochlear symmetric nerves, while the vestibular function appeared to be less influenced. Furthermore, we found another two TIMM8A variations, the deletion c.133_135delGAG and a copy number variation (CNV) including the TIMM8A gene, in two independent case, when we performed NGS on an auditory neuropathy population. CONCLUSION: We identified two novel variations in the TIMM8A gene (c.232_233insCAAT and c.133_135delGAG) and a CNV including the TIMM8A gene in three independent Chinese families with predicted MTS. To our knowledge, this is the first report of TIMM8A variations being identified in a Chinese population. Our results enrich the variation spectrum of TIMM8A and clinical heterogeneity of MTS. Genetic detection and diagnosis is a powerful tool for better understanding and managing syndromic hearing impairments, such as MTS, before they become full-blown.

3 Article A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. 2018

Wang, Li / Feng, Yong / Yan, Denise / Qin, Litao / Grati, M'hamed / Mittal, Rahul / Li, Tao / Sundhari, Abhiraami Kannan / Liu, Yalan / Chapagain, Prem / Blanton, Susan H / Liao, Shixiu / Liu, Xuezhong. ·Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China. · Department of Otolaryngology (D-48), Miller School of Medicine, University of Miami, 1666 NW 12th Avenue, Miami, FL, 33136, USA. · Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China. · Laboratory of Cell Structure and Dynamics, NIDCD, NIH, Bethesda, MD, 20892, USA. · Department of Physics, Florida International University, Miami, FL, USA. · Biomolecular Sciences Institute, Florida International University, Miami, FL, USA. · Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. · Department of Otolaryngology (D-48), Miller School of Medicine, University of Miami, 1666 NW 12th Avenue, Miami, FL, 33136, USA. xliu@med.miami.edu. · Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China. xliu@med.miami.edu. · Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. xliu@med.miami.edu. ·Hum Genet · Pubmed #29860631.

ABSTRACT: Identification of genes with variants causing non-syndromic hearing loss (NSHL) is challenging due to genetic heterogeneity. The difficulty is compounded by technical limitations that in the past prevented comprehensive gene identification. Recent advances in technology, using targeted capture and next-generation sequencing (NGS), is changing the face of gene identification and making it possible to rapidly and cost-effectively sequence the whole human exome. Here, we characterize a five-generation Chinese family with progressive, postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL). By combining population-specific mutation arrays, targeted deafness genes panel, whole exome sequencing (WES), we identified PDE1C (Phosphodiesterase 1C) c.958G>T (p.A320S) as the disease-associated variant. Structural modeling insights into p.A320S strongly suggest that the sequence alteration will likely affect the substrate-binding pocket of PDE1C. By whole-mount immunofluorescence on postnatal day 3 mouse cochlea, we show its expression in outer (OHC) and inner (IHC) hair cells cytosol co-localizing with Lamp-1 in lysosomes. Furthermore, we provide evidence that the variant alters the PDE1C hydrolytic activity for both cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). Collectively, our findings indicate that the c.958G>T variant in PDE1C may disrupt the cross talk between cGMP-signaling and cAMP pathways in Ca

4 Article Temporary conductive hearing loss in early life impairs spatial memory of rats in adulthood. 2018

Zhao, Han / Wang, Li / Chen, Liang / Zhang, Jinsheng / Sun, Wei / Salvi, Richard J / Huang, Yi-Na / Wang, Ming / Chen, Lin. ·Hefei National Laboratory for Physical Sciences at the Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, China. · Auditory Research Laboratory, University of Science and Technology of China, Hefei, China. · Department of Otolaryngology-Head and Neck Surgery, Wayne State University School of Medicine, Detroit, Michigan. · Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York. ·Brain Behav · Pubmed #29855161.

ABSTRACT: INTRODUCTION: It is known that an interruption of acoustic input in early life will result in abnormal development of the auditory system. Here, we further show that this negative impact actually spans beyond the auditory system to the hippocampus, a system critical for spatial memory. METHODS: We induced a temporary conductive hearing loss (TCHL) in P14 rats by perforating the eardrum and allowing it to heal. The Morris water maze and Y-maze tests were deployed to evaluate spatial memory of the rats. Electrophysiological recordings and anatomical analysis were made to evaluate functional and structural changes in the hippocampus following TCHL. RESULTS: The rats with the TCHL had nearly normal hearing at P42, but had a decreased performance with the Morris water maze and Y-maze tests compared with the control group. A functional deficit in the hippocampus of the rats with the TCHL was found as revealed by the depressed long-term potentiation and the reduced NMDA receptor-mediated postsynaptic current. A structural deficit in the hippocampus of those animals was also found as revealed the abnormal expression of the NMDA receptors, the decreased number of dendritic spines, the reduced postsynaptic density and the reduced level of neurogenesis. CONCLUSIONS: Our study demonstrates that even temporary auditory sensory deprivation in early life of rats results in abnormal development of the hippocampus and consequently impairs spatial memory in adulthood.

5 Article Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. 2018

Guan, Jing / Wang, Hongyang / Lan, Lan / Wang, Li / Yang, Ju / Xie, Linyi / Yin, Zifang / Xiong, Wenping / Zhao, Lidong / Wang, Dayong / Wang, Qiuju. ·Chinese PLA Institute of Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, China. ·Am J Med Genet A · Pubmed #29048736.

ABSTRACT: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of ARNSHL. Biallelic mutations in the PDZD7 gene have been reported in two German families, four Iranian families, and a Pakistani family with ARNSHL. The effect of PDZD7 on ARNSHL in other population has yet to be elucidated. Two Chinese ARNSHL families, each of which had two affected siblings, were included in this study. The families underwent target region capture and high-throughput sequencing to analyze the exonic, splice-site, and intronic sequences of 128 genes. Furthermore, 1751 normal Chinese individuals served as controls, and 122 Chinese families segregating with apparent ARNSHL, who had been previously excluded for variants in the common deafness genes GJB2 and SLC26A4, were subjected to screening for candidate mutations. We identified a novel homozygous missense mutation (p.Arg66Leu) and novel compound heterozygous frameshift mutations (p.Arg56fsTer24 and p.His403fsTer36) in Chinese families with ARNSHL. This is the first report to identify PDZD7 as an ARNSHL-associated gene in the Chinese population. Our finding could expand the pathogenic spectrum and strengthens the clinical diagnostic role of the PDZD7 gene in ARNSHL patients.

6 Article Clinical Auditory Phenotypes Associated with 2017

Wang, Li / Lin, Qiong-Fen / Wang, Hong-Yang / Guan, Jing / Lan, Lan / Xie, Lin-Yi / Yu, Lan / Yang, Ju / Zhao, Cui / Liang, Jin-Long / Zhou, Han-Lin / Yang, Huan-Ming / Xiong, Wen-Ping / Zhang, Qiu-Jing / Wang, Da-Yong / Wang, Qiu-Ju. ·Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853; Department of Clinical Medicine, School of Medicine, Nankai University, Tianjin 300071, China. · Beijing Genomics Institute, Shenzhen, Guangdong 518083, China. · Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China. · Beijing Genomics Institute, Shenzhen, Guangdong 518083; James D. Watson Institute of Genome Sciences, Hangzhou, Zhejiang 310058, China. ·Chin Med J (Engl) · Pubmed #28303854.

ABSTRACT: BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided. RESULTS: In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations. CONCLUSIONS: This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.

7 Article Remodeling of Dendritic Spines in the Avian Vocal Motor Cortex Following Deafening Depends on the Basal Ganglia Circuit. 2017

Zhou, Xin / Fu, Xin / Lin, Chun / Zhou, Xiaojuan / Liu, Jin / Wang, Li / Zhang, Xinwen / Zuo, Mingxue / Fan, Xiaolong / Li, Dapeng / Sun, Yingyu. ·Beijing Key Laboratory of Gene Resource and Molecular Development, Laboratory of Neuroscience and Brain Development, College of Life Sciences, Beijing Normal University, Beijing 100875, China. · Department of Biology, Hainan Normal University, Haikou 571158, China. · Center for Biological Imaging (CBI), Institute of Biophysics, Chinese Academy of Science, Beijing 100101, China. · State Key Laboratory of Brain and Cognitive Sciences. ·Cereb Cortex · Pubmed #27166173.

ABSTRACT: Deafening elicits a deterioration of learned vocalization, in both humans and songbirds. In songbirds, learned vocal plasticity has been shown to depend on the basal ganglia-cortical circuit, but the underlying cellular basis remains to be clarified. Using confocal imaging and electron microscopy, we examined the effect of deafening on dendritic spines in avian vocal motor cortex, the robust nucleus of the arcopallium (RA), and investigated the role of the basal ganglia circuit in motor cortex plasticity. We found rapid structural changes to RA dendritic spines in response to hearing loss, accompanied by learned song degradation. In particular, the morphological characters of RA spine synaptic contacts between 2 major pathways were altered differently. However, experimental disruption of the basal ganglia circuit, through lesions in song-specialized basal ganglia nucleus Area X, largely prevented both the observed changes to RA dendritic spines and the song deterioration after hearing loss. Our results provide cellular evidence to highlight a key role of the basal ganglia circuit in the motor cortical plasticity that underlies learned vocal plasticity.

8 Article Clinical Study on 136 Children with Sudden Sensorineural Hearing Loss. 2016

Li, Feng-Jiao / Wang, Da-Yong / Wang, Hong-Yang / Wang, Li / Yang, Feng-Bo / Lan, Lan / Guan, Jing / Yin, Zi-Fang / Rosenhall, Ulf / Yu, Lan / Hellstrom, Sten / Xue, Xi-Jun / Duan, Mao-Li / Wang, Qiu-Ju. ·Department of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China. ·Chin Med J (Engl) · Pubmed #27064040.

ABSTRACT: BACKGROUND: The prevalence of sudden sensorineural hearing loss in children (CSSNHL) is consistently increasing. However, the pathology and prognosis of CSSNHL are still poorly understood. This retrospective study evaluated clinical characteristics and possible associated factors of CSSNHL. METHODS: One hundred and thirty-six CSSNHL patients treated in Department of Otolaryngology-Head and Neck Surgery and Institute of Otolaryngology at Chinese PLA General Hospital between July 2008 and August 2015 were included in this study. These patients were analyzed for clinical characteristics, audiological characteristics, laboratory examinations, and prognostic factors. RESULTS: Among the 136 patients (151 ears), 121 patients (121 ears, 80.1%) were diagnosed with unilaterally CSSNHL, and 15 patients (30 ears, 19.9%) with bilateral CSSNHL. The complete recovery rate of CSSNHL was 9.3%, and the overall recovery rate was 37.7%. We found that initial degree of hearing loss, onset of treatment, tinnitus, the ascending type audiogram, gender, side of hearing loss, the recorded auditory brainstem response (ABR), and distortion product otoacoustic emissions (DPOAEs) had prognostic significance. Age, ear fullness, and vertigo had no significant correlation with recovery. Furthermore, the relevant blood tests showed 30.8% of the children had abnormal white blood cell (WBC) counts, 22.1% had elevated homocysteine levels, 65.8% had high alkaline phosphatase (ALP), 33.8% had high IgE antibody levels, and 86.1% had positive cytomegalovirus (CMV) IgG antibodies. CONCLUSIONS: CSSNHL commonly occurs unilaterally and results in severe hearing loss. Initial severe hearing loss and bilateral hearing loss are negative prognostic factors for hearing recovery, while positive prognostic factors include tinnitus, gender, the ascending type audiogram, early treatment, identifiable ABR waves, and DPOAEs. Age, vertigo, and ear fullness are not correlated with the recovery. Some serologic indicators, including the level of WBC, platelet, homocysteine, ALP, positive CMV IgG antibody, fibrinogen, and some immunologic indicators, are closely related to CSSNHL.

9 Article [Prognostic factors of sudden sensorineural hearing loss in children]. 2015

Li, Fengjiao / Xue, Xijun / Wang, Li / Yang, Fengbo / Wang, Hongyang / Guan, Jing / Du, Wan / Xiong, Wenping / Wu, Kaiwen / Wu, Mukun / Yin, Zifang / Lan, Lan / Wang, Dayong / Wang, Qiuju. · ·Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi · Pubmed #26911052.

ABSTRACT: OBJECTIVE: The aim of this retrospective study was to analyze the recovery rate of sudden sensorineural hearing loss in children, and explore the prognostic factors in order to guide the clinical diagnosis and treatment. METHOD: A retrospective review was conducted for the prognosis of children with sudden sensorineural hearing loss during the past 5 years (from November 2010 to May 2015) in Chinese PLA General Hospital. This paper have a complete clinical data of 101 patients (113 ears)with sudden hearing loss, ranging from 0 to 18 years old Patients were divided into four groups according to hearing recovery and eight putative prognostic factors were analyzed. RESULT: Among 101 patients (113 ears), the ratio of male and female was 60:53. Treatment was initiated from 1 to 183 days after disease onset, with an average of (18.5 ± 22.1) d. Bilateral and unilateral hearing loss were 24 ears and 89 ears, respectively. The proportion of mild hearing loss, moderate hearing loss, severe hearing loss and profound hearing loss were 7.1%, 6.2%, 23.9% and 62.8%, respectively. Vertigo and tinnitus occurred in 54.9% and 77.9% of the patients, respectively. After the treatment, the complete recovery rate was 9.7% and the overall recovery rate was 36.3%. The degree of hearing loss, earlier treatment onset, sex and bilateral involvement were significantly associated with hearing recovery (P < 0.05). CONCLUSION: Sudden sensorineural hearing loss in children was generally identified as severe and profound hearing loss, but after positive and timely treatment, it can be improved or even cured. The mild hearing loss, earlier treatment onset, unilateral hearing loss and female were positive prognostic factors. The concurrence of tinnitus or vertigo, the results of ABR and DPOAE had no significant influence on prognosis.

10 Article Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment. 2015

Xiong, WenPing / Wang, DaYong / Gao, Yuan / Gao, Ya / Wang, HongYang / Guan, Jing / Lan, Lan / Yan, JunHao / Zong, Liang / Yuan, Yuan / Dong, Wei / Huang, SeXin / Wu, KeLiang / Wang, YaoShen / Wang, ZhiLi / Peng, HongMei / Lu, YanPing / Xie, LinYi / Zhao, Cui / Wang, Li / Zhang, QiuJing / Gao, Yun / Li, Na / Yang, Ju / Yin, ZiFang / Han, Bing / Wang, Wei / Chen, Zi-Jiang / Wang, QiuJu. ·Department of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. · Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, 250021, China. · National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, 250021, China. · BGI-Shenzhen, Shenzhen, 518083, China. · Department of Ultrasonography, Chinese PLA General Hospital, Beijing, 100853, China. · Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China. · Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, 250021, China. chenzijiang@hotmail.com. · National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, 250021, China. chenzijiang@hotmail.com. · The Key laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, 250021, China. chenzijiang@hotmail.com. · Department of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. wqcr301@sina.com. ·Sci China Life Sci · Pubmed #26432548.

ABSTRACT: A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a singleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.

11 Article [Genetic analysis and prenatal diagnosis for non-syndromic hearing impairment]. 2013

Wang, Li / Zhao, Hui-ru / Liao, Shixiu / Yang, Yan-li / Li, Tao / Zhang, Bing / Ding, Xue-bing / Ma, Song / Liu, Hong-jian. ·Medical Genetics Institute and Department of Ear, Nose and Throat, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, P. R. China. Email: ychslshx@yahoo.com.cn. ·Zhonghua Yi Xue Yi Chuan Xue Za Zhi · Pubmed #24078562.

ABSTRACT: OBJECTIVE: To detect genetic mutations underlying non-syndromic hearing impairment (NSHI) and establish a method for prenatal diagnosis. METHODS: Sixty six NSHI patients were included in this study. DNA was extracted from peripheral blood. Genetic mutations were detected by gene chip analysis and direct sequencing of GJB2 gene. For 7 pregnant women at high risk, prenatal genetic diagnosis was provided. RESULTS: Fourteen cases (21.21%) were found to have GJB2 mutations by both methods (homozygous 235delC mutation in 3 cases, homozygous 176del16 mutation in 2 cases, 235delC and 299delAT compound heterozygous mutation in 2 cases, 299delAT and 176del16 compound heterozygous mutation in 1 case, c.339T > G and 313del12bp compound heterozygous mutation 1 case, and 235delC heterozygous mutation in 5 cases). 13 (19.70%) had SLC26A4 mutations (IVS7-2 A >G homozygous mutation in 2 cases, IVS7-2 A > G homozygous mutation in 2 cases, IVS7-2 A > G and 2168A > G compound heterozygous mutation in 3 cases, 2168A>G heterozygous mutation in 3 cases, and IVS7-2 heterozygous mutation in 3 cases); and 3 had mtDNA12S rRNA mutation (1555A > G mutation in 2 cases, 1494C > T mutation in 1 case). Prenatal diagnosis suggested that 3 fetuses have carried a heterozygous mutation. Two fetuses were detected as normal and confirmed to have normal hearing after birth. Two fetuses were found to have carried compound mutations of GJB2. CONCLUSION: Gene chip combined with GJB2 gene analysis is an accurate and effective method for the diagnosis of NSHI. The results can facilitate accurate prenatal diagnosis.