Background: Mutations in the USH2A gene are strongly associated with hereditary sensorineural loss. However, the cellular mechanisms linking USH2A deficiency to cochlear hair cell vulnerability remain incompletely understood. Aims: This study aimed to investigate the effects of USH2A knockdown on Prestin expression and apoptosisrelated signaling in a cochlear hair cell model. Methods: Stable USH2A knockdown HEI-OC1 cells were generated using lentiviral shRNA transduction followed by puromycin selection (2 mu g/mL for 7 days). Gene and protein expression levels of Prestin, Bax, and Bcl-2 were assessed by RT-qPCR (2<^>(-Delta Delta Ct) method), Western blotting, and immunofluorescence. Apoptosis was evaluated by flow cytometry (Annexin V/PI), TUNEL staining, and cleaved caspase-3 immunofluorescence. Results: USH2A knockdown reduced Prestin mRNA and protein expression by approximately 60% compared with the sh-NC group (P < 0.01). Bax expression increased more than 2.5-fold, whereas Bcl-2 levels decreased by similar to 50%, indicating disruption of apoptotic balance. Flow cytometry revealed increased early apoptotic (2.16% -* 4.58%) and late apoptotic (16.3% -* 22.0%) populations. TUNEL-positive cells increased from 2.8 +/- 0.6% to 12.4 +/- 2.1% (P < 0.01), and cleaved caspase-3 fluorescence intensity was approximately threefold higher in the knockdown group. Conclusion: USH2A knockdown significantly reduces Prestin expression and promotes apoptosis through modulation of the Bax/Bcl-2 axis in HEI-OC1 cells. These findings provide mechanistic insights into how USH2A deficiency may increase cochlear hair cell vulnerability and potentially contribute to auditory dysfunction. Further in vivo validation is warranted.

Background:Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing loss, retinitis pigmentosa, and variable vestibular dysfunction. USH2A is one of the causative genes of USH. This study is aimed at exploring the mechanism of hearing loss induced by USH2A gene knockout. Method:USH2A knockout (Ush2a-/-) mice were used, and auditory brainstem response testing was performed on WT, Ush2a-/-, and Ush2a+/- mice. Then, the cochlea tissues were used to carry out immunofluorescence staining, hematoxylin and eosin (H&E) staining, and scanning electron microscopy (SEM). The mRNA expressions were detected by RT-qPCR. Finally, the differentially expressed genes (DEGs) in cochlear tissues of Ush2a-/- and WT mice were identified by transcriptome sequencing. Results:Compared to WT mice, Ush2a-/- and Ush2a+/- mice exhibited moderate-to-severe nonprogressive hearing loss, with more pronounced deficits at low (4 kHz) and high (32/24 kHz) frequencies. HE staining and immunofluorescence staining showed that the modiolus, stria vascularis, basilar membrane, and the number of inner hair cells and outer hair cells (OHCs) in USH2A knockout mice have not changed. However, SEM results showed that severe stereociliary collapse was evident in OHCs of the Ush2a-/- group. In addition, through transcriptomic analysis, 3632 upregulated genes and 2921 downregulated genes were obtained in the Ush2a-/- mice. Among these DEGs, the most DEGs associated with hearing loss were Scn2a, Shank2, Bsn, Fcer1g, Prkce, Tgfb1, and Irf7. Conclusion:This study demonstrates that USH2A deficiency disrupts auditory function through stereociliary instability and dysregulation of genes critical for synaptic transmission and cytoskeletal dynamics.

BACKGROUND:Cochlear implantation (CI) is a standard intervention for congenital severe to profound sensorineural hearing loss. However, postoperative auditory and speech outcomes vary considerably across patients, and the developmental status of the cochlear nerve is considered a major determinant of rehabilitation efficacy. OBJECTIVE:This study aimed to assess the correlation between cochlear nerve cross-sectional area (CNCSA) and outcomes after cochlear implantation (CI). METHODS:We retrospectively analyzed 136 bilateral CI recipients, comparing auditory and speech rehabilitation results over 2 years postoperatively with bilateral CNCSA. Patients were grouped based on average CNCSA. RESULTS:A significant positive correlation was observed between CNCSA and scores on the IT-MAIS, MUSS, CAP, and SIR at 2 years post-CI. Patients with bilateral CNCSA >0.87 mm2 had significantly better speech rehabilitation outcomes than those with one or both nerves below this threshold. CONCLUSIONS:CNCSA is correlated with post-CI rehabilitation outcomes in patients with severe-to-profound sensorineural hearing loss, and may serve as a predictor for auditory and speech rehabilitation success.

BACKGROUND:Hearing loss, a major public health issue, affects 1.33 per 1,000 live births worldwide. Genetic factors contribute to over half of congenital cases, with X-linked inheritance accounting for 1-5%. POU3F4 mutations are associated with approximately 50% of X-linked non-syndrome hearing loss cases. POU3F4 plays a critical role in cochlear development by regulating otic mesenchyme cell differentiation. The study investigates the impact of a novel POU3F4 p.E294G mutation on cochlear structure and function using cellular and animal model. METHODS:The study utilized immortalized lymphoblastoid cell lines, POU3F4 overexpressed HEK293 cells and generated Pou3f4 knock-in (Pou3f4KI) mice via CRISPR/Cas9 to introduce the p.E294G mutation. Alterations in expression and subcellular localization of POU3F4 were detected at the cellular level. Auditory function was assessed using auditory brainstem response testing. Cochlear structure was analyzed through histology, immunohistochemistry, scanning electron microscopy, and transmission electron microscopy. RNA sequencing, qPCR and Western blot were conducted to evaluate gene expression and mitochondrial function. RESULTS:The transcription of POU3F4 was abnormal and the expression was normal in lymphoblastoid cell lines. Abnormal nuclear localization of POU3F4 p.E294G was found in overexpressed HEK293 cells. Pou3f4KI mice exhibited cochlear malformations, including modiolus hypoplasia and reduced stria vascularis cell populations. Auditory testing revealed progressive hearing loss. Pou3f4 affect mitochondrial protein expression by affecting the expression of TFAM. Mitochondrial dysfunction was evident, with reduced oxidative phosphorylation (OXPHOS) complex assembly and activity, decreased ATP levels. The level of reactive oxygen species, mitochondrial fission and apoptosis in cochlea were elevated. CONCLUSIONS:The POU3F4 p.E294G resulted in abnormal nuclear localization. Pou3f4 mutant disrupts cochlear development and function, impairs mitochondrial integrity, induces oxidative stress, and promotes apoptosis, leading to progressive hearing loss. The findings enhance the understanding of POU3F4-related hearing loss mechanisms and highlight the importance of early genetic screening and audiological monitoring.

BackgroundCochlear implants (CI) help regain perception of sound for patients with sensorineural hearing loss. The ability to recognize music pitch may be crucial for recognizing and producing speech for Mandarin. Aims/ObjectivesThis study aims to search for possible influencing factors of music perception and correlations between music perception and auditory speech abilities among prelingually deaf pediatric Mandarin-speaking CI users. Material and MethodsMusic perception of 24 pediatric CI users and 12 normal hearing children was measured using the MuSIC test. Auditory speech perception of the 24 CI users was also measured and analyzed with their music perception results. ResultsPediatric CI users performed worse than normal hearing children in pitch, rhythm and melody discrimination tests (p < .05). Significant difference in pitch and melody discrimination tests between age at implantation <5 and >5 groups was found. There were significant correlations between perception of consonants, tones, and speech in a noisy environment and perception of music pitch and melody. Conclusion and SignificancePrelingually deaf pediatric CI users who received implantation before the age of five perform better in music perception tests. Pediatric CI users with better music perception show better auditory speech perception of Mandarin.

BACKGROUND:SLC26A4 gene mutations related to hearing loss patients can obtain good hearing and speech rehabilitation effects after cochlear implantation (CI). OBJECTIVE:To explore the long-term rehabilitative outcomes of CI in patients with different SLC26A4 mutation groups. MATERIAL AND METHODS:Clinical data of 71 patients with SLC26A4 gene mutations who received CI in the Second Hospital of Lanzhou University from 2012 to 2015 were retrospectively reviewed. According to the genetic test results, use One-way ANOVA analysis to compare the differences in auditory results, categories of auditory performance (CAP) and speech intelligibility rating (SIR) index questionnaire scores and speech recognition rates among different groups in 4-5 years after CI. RESULT:Compared with other genotypes of SLC26A4, the patients with homozygous mutation of c.919-2A > G in SLC26A4 had better hearing aid threshold at 500 Hz and better recognition rates of Yangyang words than other monoallelic mutation groups after CI (p < .05). CONCLUSIONS AND SIGNIFICANCE:The most common hot spot mutation of SLC26A4 gene is c.919-2A > G. The patients with homozygous mutation of c.919-2A > G in SLC26A4 gene had partly better hearing and speech rehabilitation than other monoallelic mutation groups after CI.

Objectives To evaluate the mental health of paediatric cochlear implant users and analyse the relationship between six dimensions (movements, cognitive ability, emotion and will, sociality, living habits and language) and hearing and speech rehabilitation. Methods Eighty-two cochlear implant users were assessed using the Mental Health Survey Questionnaire. Age at implantation, time of implant use and listening modes were investigated. Categories of Auditory Performance and the Speech Intelligibility Rating Scale were used to score hearing and speech abilities. Results More recipients scored lower in cognitive ability and language. Age at implantation was statistically significant ( p < 0.05) for movements, cognitive ability, emotion and will, and language. The time of implant usage and listening mode indicated statistical significance ( p < 0.05) in cognitive ability, sociality and language. Conclusion Timely attention should be paid to the mental health of paediatric cochlear implant users, and corresponding psychological interventions should be implemented to make personalised rehabilitation plans.

BackgroundCongenital sensorineural hearing loss is a common congenital condition.ObjectivesThe purpose of this study was to assess the correlation between nonverbal mental development and the effect of post-cochlear implant in children.Material and methodsThe study is a retrospective analysis of the CI program implemented at the ENT in the Lanzhou University Second Hospital (China). We reviewed data of 225 children who received CI between 2015 and 2018. Finally, 115 children met the inclusion criteria. Our hospital used The Griffith mental development scales to evaluate the preoperative non-verbal intelligence. The outcome of CI was evaluated using the categories of IT-MAIS, MUSS, CAP and SIR at 2 years after surgery. The associations between the preoperative non-verbal development quotient (DQ) and the postoperative outcomes were analyzed.ResultsPreoperative non-verbal DQ correlates with the long-term postoperative result, especially the Eye-hand co-ordination and Performance DQ.Conclusions and SignificancePreoperative non-verbal intelligence would predict postoperative effect. The single postoperative scale does not fully reflect the postoperative result.

BACKGROUND:Central lucency of the bony island of the lateral semicircular canal (LSCC) is commonly found in patients with congenital severe-to-profound sensorineural hearing loss (SNHL).OBJECTIVE:Exploring the significance of bony island lucency of LSCC in congenital severe-to-profound SNHL patients.MATERIAL AND METHODS:Retrospective measurements of the inner ear structures were made on axial temporal bone CT scans from 182 (364 ears) congenital severe-to-profound SNHL patients and 50 (100 ears) tympanic membrane perforation (TMP) patients.RESULTS:The incidence of bony island lucency of LSCC was 46.7% in the congenital severe-to-profound SNHL group and 0% in the TMP group. There was a statistically significant difference in inner ear structures among congenital severe-to-profound SNHL patients with normal inner ear structure and bony island lucency of LSCC, congenital severe-to-profound SNHL patients with normal inner ear structure and no bony island lucency of LSCC, and TMP patients. The importance of the bony island lucency of LSCC was further confirmed through multiple linear regression analysis.CONCLUSIONS AND SIGNIFICANCE:Bony island lucency may have significance in congenital severe-to-profound SNHL and may be a manifestation of largely overlooked SCC malformation or hypoplasia of the inner ear.

More than 120 genes have been reported to be associated with deafness, and deletion of the TBL1X gene may cause deafness in humans. In this study, we generated an induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a 34-year-old deaf person with a novel variant c.342_343insGCGGCG in the TBL1X gene. The induced patient-specific iPSC line with a normal karyotype and expressed pluripotent markers, it also shows differentiation totipotency and tridermogenesis in vivo. It may be a good model for studying hearing loss in vitro and it will benefit to the development of new therapies for deafness.

Background : The GJB2 gene is the most common deafness gene, and epidemic characteristics have obvious racial specificity. Our study aimed to investigate the prevalence and ethnic specificity of the GJB2 gene in deafness in major ethnic groups in Northwest China, evaluate the value of molecular screening for deafness in minority populations, and explore the strategies and methods for genetic diagnosis. Methods : Ethics approval was obtained to collect 1330 cases of moderate to very severe nonsyndromic sensorineural deafness in northwestern China. The mutation characteristics of ethnic minorities were analyzed and compared with those of 464 patients with nonsyndromic sensorineural deafness among ethnic Han in the northwestern from research group by Sequence Scanner V25.0. Then, we analyzed the ethnic specificity of the mutations. Results : A total of 15 GJB2 sequence changes were detected in 1330 minority patients. The study showed that the allele frequency in Tibetan patients was significantly lower than that in Hui and Dongxiang patients, that in Uygur patients was significantly lower than that in Han and Hui patients, and that in Kazak and Tibetan patients was significantly lower than that in Han patients, and the differences between other ethnic groups were not statistically significant. Each ethnic group has a unique GJB2 gene mutation spectrum, and its hotspot mutation distribution has its own characteristics, with c.235delC, c.109 G > A, c.299-300delAT, and c.35delG being common. Conclusions : It has been confirmed that GJB2 gene mutation has a high prevalence in patients with nonsyndromic sensorineural hearing loss in Northwest China. Each ethnic group has a unique mutation spectrum for the GJB2 gene, which is related to its genetic background. It is necessary to develop a corresponding gene diagnosis strategy according to the hotspot mutations and mutation spectrum of each ethnic group.

目的 通过分析前庭水管扩大(Enlarged vestibular aqueduct,EVA)患者行人工耳蜗植入(Cochlear implan-tation,CI)的听觉言语康复效果,并与内耳形态正常组CI患者进行对比,评估EVA患者接受CI治疗的有效性,探讨内耳形态学对术后听觉言语康复效果的影响.方法 选择诊断为EVA并行CI患者71例,另筛选临床资料相匹配的71例内耳形态正常CI患者作为对照组,所有患者术后三年进行听力言语评估,包括声场助听听阈,听觉能力分级(Categories of auditory performace,CAP)及言语可懂度分级(Speech intelligibility rating,SIR)问卷评估,通过"心爱飞扬"言语测试软件进行言语识别能力评估.另外测量前庭水管(Vestibular aqueduct,VA)中点直径,CT阅片确诊不完全分隔II型(Incomplete partition of the cochlea,IP-II),研究内耳形态异常对术后听觉言语康复效果的影响.结果 EVA组与内耳形态正常组患者和单纯EVA与EVA伴IP-II畸形患者术后三年听觉言语康复效果无统计学差异.EVA组VA中点直径平均值为2.70±0.79 mm,VA中点直径大于3.0mm组与VA中点直径扩大小于3.0 mm组,两组患者CI术后言语识别能力具有统计学差异.结论 EVA患者通过CI可获得与内耳形态正常者相当的听觉言语康复效果;EVA是否伴IP-II畸形与术后听觉言语康复效果无相关性;VA中点直径扩大超过3.0 mm,EVA患者CI术后听觉言语康复效果较差.

目的 探讨自发性脑脊液耳漏的早期临床表现、诊断及手术方法.方法 结合文献分析一例4岁儿童(病例1)和一例68岁成人(病例2)自发性脑脊液耳漏患者的临床表现、听力及影像学等检查结果、手术方法及预后.结果 病例1表现为反复发作化脓性脑膜炎;影像学检查见中耳低密度影,未见明显骨质缺损;中耳积液检测符合脑脊液;该病例经耳道鼓室入路手术探查发现漏口位于镫骨底板,表现为裂隙样骨质缺损,采用哑铃状肌肉筋膜填塞后修补成功.病例2主要表现为耳闷和听力下降;影像学及中耳积液检查同病例1;经耳道鼓室联合乳突入路手术探查发现漏口位于鼓室天盖,通过多层填塞法修补成功.病例1随访1年、病例2随访6个月均无复发.结论 自发性脑脊液耳漏在儿童和成人的临床表现差异大且特异性差,易误诊,可通过影像学及中耳积液的实验室检查辅助诊断;手术是最有效的治疗方法且效果可靠;需综合临床表现及影像学检查后选择合适手术入路.

Pharyngeal ectopic thymus is a rare cause of pharyngeal masses and is rarely considered in the differential diagnosis of neck and head masses in children. In this paper, the case of an infant with a pharyngeal ectopic thymus is presented and our intraoral surgical approach in the patient's treatment is described.

目的 分析先天性内耳畸形在人工耳蜗植入患者人群中的构成、分类、电极的选择、术中可能出现的风险及术后并发症.方法 回顾性分析2012-2017年行人工耳蜗植入术的604例患者的听力学及影像学资料,根据senuaroglu 2010标准对内耳畸形进行分类,分析不同种类的内耳畸形在人工耳蜗植入患者中的分布、术中可能出现的风险及术后并发症.结果 604例人工耳蜗植入患者中,内耳畸形共170例(330耳),占27.32％(330/1208).其中前庭水管扩大132例(254耳),占先天性内耳畸形的76.97％(254/330),是最常见的先天性内耳畸形.在170例(330耳,单耳畸形10例)内耳畸形患者中,共218耳行人工耳蜗植入手术(其中41例行双侧人工耳蜗植入),4耳伴有面神经走行异常,4耳圆窗龛形态异常,16耳在术中发生"镫井喷",发生率为7.34％,3耳电极植入困难(其中2耳部分植入,1耳全部植入).1例大前庭水管综合征患者术后出现对侧听力下降,1例不完全分隔II型患者术后出现切口感染,所有患者术后均未出现脑脊液耳漏,面瘫等其它并发症.结论 内耳畸形是先天性感音神经性聋的重要病因之一,大多数内耳畸形患者接受人工耳蜗植入手术具有肯定的疗效.手术前需要进行全面的评估,选择合适的手术入路及植入电极,谨慎处理术中意外,预防并发症.

Objective:To investigate the distribution of common inner ear and internal auditory canal malformations in children with single-sided deafness（SSD） ,and to explore the imaging etiology of SSD by comparing the quantitative parameters of key bone structures between deaf and normal ears in children with congenital SSD. Method:Forty children with SSD diagnosed in the Second Hospital of Lanzhou University from September 2016 to March 2019 were collected. All of them underwent HRCT examinations of temporal bone . The area of bone island, the width of vestibular, the width of internal auditory canal, the height of cochlear and the width of cochlear basal axis were measured. Paired t test was used to compare the difference between the hearing abnormality and normal hearing in children with SSD. Result:The rate of inner ear deformity was 62.5% in SSD group,the most common deformity was cochlear nerve canal deformity, 20 cases （50.0%） of cochlear canal stenosis and 3 cases （7.5%） of cochlear canal atresia.The second most common deformity was internal auditory canal deformity, including 5 cases （12.5%） of internal auditory canal stenosis and 1 case （2.5%） of internal auditory canal atresia. Other malformations included 1 case（2.5%） of RO, 2 cases （5.0%） of incomplete partition （IP） type II and 1 case （2.5%） of enlargement of vestibular aqueduct （EVA）. There are no significant difference in the measured results of the key structures of the inner ear between two groups except the width of cochlear nerve canal, internal auditory canal and the area of bone island. Conclusion:The main inner ear deformities in children with SSD are cochlear nerve canal stenosis and inner auditory canal stenosis. HRCT of temporal bone has high diagnostic value for inner ear deformities in children with SSD.

Background: The clinical characteristics of LVAS have attracted more and more attention, its audiology and imaging features have also been deeply studied. Objective: To analyze phenotypes, genotypes of EVA, and find out the relationship between them. Methods: Sixty EVA patients were tested by audiometry, temporal bone high-resolution CT and inner ear MRI. SNPscan technology were carried out after the patients signed informed consent. SPSS19.0 software was used. Result: 1. Three types malformations include EVA, EVA with Mondini and Mondini were found. They accounted for 48.20%, 40.10%, and 11.70%. 2. The SLC26A4 gene mutation frequency was (47/53) 88.68% in EVA patients. The most common genotype was c.919-2A > G/c.919-2A > G, accounting for 28.30%. The most common mutation type was c.9I9-2A > G. 3. GJB2 and SLC26A4 gene mutation frequencies were significantly different (chi 2xff1d;65.185, p<.001). Conclusions: 1. EVA patients with severe sensorineural hearing loss were always diagnosed in childhood and Cochlear implantation was feasible for these patients with the bilateral hearing loss. 2. SLC26A4 gene was closely related to EVA. 3. GJB2 and mtDNA genes were not responsible for EVA. Significance: The relationship between genotype and clinical phenotype provides a theoretical basis for future gene diagnosis and prevention and treatment of LVAS.

目的 通过对250例接受人工耳蜗植入手术的患者进行常见聋病相关基因突变检测,分析人工耳蜗植入的感音神经性听力损失群体中常见致聋基因的流行情况及突变频率,探讨基因突变与内耳畸形的关系,研究开展遗传咨询和人工耳蜗植入术前评估的科学途径.方法 收集在我院接受工耳蜗植入手术的250例患者的临床资料,签订知情同意书后采全血,提取外周血基因组DNA,设计特异性扩增引物后利用多重PCR技术扩增目的 片段进行纯化,采用华大基因公司定制的基因片段捕获芯片进行22个聋病相关基因共159个突变位点筛查.总结人工耳蜗植入群体基因突变的分布规律及突变频率,探讨基因突变与内耳畸形的相关性.结果 所有250例患者中有77例患者检出基因突变,突变频率为30.80％(77/250).其中SLC26A4基因突变频率为13.60％(34/250),占所有突变阳性患者的44.16％(34/77),共检出13种序列改变,其中23例患者检出c.919-2A>G突变,占SLC26A4基因突变患者的67.65％(23/34),等位基因频率为5.2％,是该基因突变检出率最高的突变形式.有33例患者检出GJB2基因突变,突变频率为13.20％(33/250),占所有突变阳性患者的42.86％(33/77),共检测到GJB2基因7种致病突变,其中GJB2双等位基因突变23例,突变频率为9.2％(23/250),有20例患者检测到c.235delC突变,有18例患者检测到c.299-300delAT突变,等位基因频率分别为5.4％和3.8％.250例患者中6例检出mtDNA 12SrRNA突变,突变频率为2.4％(6/250).2例患者检出GJB3基因突变,突变频率为0.8％(2/250).分析表明大前庭水管综合征(Large ves-tibular aqueduct syndrome,LVAS)与内耳结构正常的SLC26A4基因突变携带率存在统计学差异(P<0.001),LVAS伴不完全分隔Ⅱ型(Incomplete partition typeⅡ,IP-Ⅱ)与内耳结构正常的SLC26A4基因突变携带率存在统计学差异(P<0.001),而LVAS与LVAS伴IP-Ⅱ的SLC26A4基因突变结果的差异没有统计学意义(P=0.059).GJB2基因突变患者合并内耳畸形的比例较低.结论 SLC26A4基因突变和GJB2基因突变在遗传性耳聋人群中有较高的发生频率.c.919-2A>G突变和c.235delC突变分别是人工耳蜗植入群体中SLC26A4基因突变和GJB2基因突变的常见形式.SLC26A4基因突变是LVAS发生的主要分子病因.LVAS及LVAS伴IP-Ⅱ与SLC26A4基因突变有明确的相关性,单纯IP-Ⅱ与SLC26A4基因突变可能无关.GJB2基因突变与多数内耳畸形无关.开展常见聋病基因的突变诊断有助于人工耳蜗植入的术前评估.

脑脊液耳漏(cerebrospinal fluid otorrhea,CSFO)是指由于各种原因使脑脊液循环系统、特别是蛛网膜下腔与中耳相通,以致脑脊液流入中耳,临床常见于慢性中耳炎、颅底骨折或手术外伤等引起,而先天性内耳畸形致自发性脑脊液耳漏并不常见,并且临床表现缺乏特异性,所以该病容易漏诊和误诊.本文报道我科成功诊治的1例先天性内耳畸形致自发性脑脊液耳漏病例,并复习相关文献,探讨先天性内耳畸形致自发性脑脊液耳漏的临床表现、诊断及治疗方法.

Objective To compare the advantages and disadvantages of SNPscan and Sanger sequence which are both used to detect the common deafness gene mutations in non-syndromic hearing loss (NSHL) in Gansu Province.Methods Peripheral blood samples were obtained from Dongxiang, Yugu and Baoan people with moderately severe to profound sensorineural hearing loss in Gansu province to extract genomic DNA.SNPscan was used to detect the 115 mutations in the common pathogenic GJB2 gene, SLC26A4 gene and mtDNA gene.Results We used the SNPscan to screen the mutation of GJB2 gene,mtDNA A1555G and mtDNA C1494T, SLC26A4 gene of sensorinural deafness patients from Gansu Province.The mutation rate of these three genes was 23.18% (35/151), and the mutation rate of Dongxiang, Yugu, Baoan was 21.31% (26/122), 54.54% (6/11), 16.67% (3/18), respectively.Compared with the Sanger sequence, the results were statistically insignificant(P>0.05).The detection rates in the three genes of SNPscan were 11.26% (17/151), 1.32% (2/151) and 0.66% (1/151),respectively , and the detection rates of Sanger sequence were 9.93% (15/151), 1.32% (2/151) and 0.66% (1/151) ,respectively.The results of the two methods were compared.The results were statistically insignificant (P>0.05).Time, cost and flux, SNPscan method is superior to Sanger sequencing.Conclusion Compared with the Sanger sequence, SNPscan is more lighter in workload, less time-consuming, higher-throughput, lower cost, and can get more meaningful mutations and reduce the false negative rates.