Objective:This study aimed to evaluate the diagnostic efficacy, clinical feasibility, and performance of PCR-coupled Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry（PCR-MALDI-TOF MS） in screening 20 common mutations across four deafness-associated genes in patients with non-syndromic hearing loss（NSHL）. Furthermore, it investigated the correlation between specific gene mutation types and the severity of hearing loss（genotype-phenotype correlation） was investigated. Methods:A total of 298 patients with NSHL（141 males and 157 females; age range: 3 months to 72 years） presenting to the Department of Otolaryngology Head and Neck Surgery at Xiangya Hospital, Central South University, between July, 2022, and July, 2024, were enrolled. The PCR-MALDI-TOF MS assay was employed to detect 20 hotspot mutations in four major deafness genes（GJB2 , SLC26A4 , GJB3 , and mtDNA 12S rRNA）. Sanger sequencing was used as the "gold standard" for bidirectional validation of all samples to assess performance metrics, including sensitivity, specificity, overall concordance rate, and the Kappa coefficient. Additionally, the audiometric phenotypes of patients carrying different pathogenic mutations were statistically analyzed. Results:Among the 298 subjects, pathogenic mutations were identified in 84 cases by PCR-MALDI-TOF MS, yielding a total detection rate of 28.19%. The mutation spectrum included 13 cases with homozygous variants, 42 with heterozygous variants, 16 with compound heterozygous variants, and 13 with homoplasmic mitochondrial DNA variants. The assay showed complete concordance with Sanger sequencing, with overall sensitivity, specificity, and concordance all reaching 100%. Among the 84 positive carriers, the distribution of hearing loss severity was as follows: mild（n=11）, moderate（n=20）, moderately severe（n=15）, severe（n=13）, and profound（n=25）. Notably, patients with profound hearing loss predominantly carried SLC26A4 mutations（13/25） and GJB2 mutations（8/25）, while those with severe hearing loss were primarily associated with SLC26A4 mutations（7/13）. Conclusion:The PCR-MALDI-TOF MS technology demonstrates high accuracy, sensitivity, and specificity, making it an ideal tool for rapid first-line screening of common deafness gene hotspots in the Chinese population. This study reveals a significant association between GJB2 truncating mutations and SLC26A4 splice site mutations with severe-to-profound hearing loss phenotypes. These findings suggest that early genetic diagnosis is crucial for predicting auditory prognosis and guiding timely clinical intervention for patients with these specific genotypes.

Waardenburg syndrome (WS) is distinguished by depigmented patches of hair and skin, striking blue eyes and sensorineural hearing loss. Studies on alternative splicing (AS) in the abnormal pigmentation in skin in WS are currently poorly understood. In this study, we conducted comprehensive full-length transcriptome sequencing analysis on abdominal skin tissues from mice harboring the Mitf p.R324del mutation and wild-type controls. Our analysis revealed 3619 differentially expressed genes (DEGs), with 1916 upregulated and 1703 downregulated. Notably, pigment-associated genes and related signaling pathways were significantly enriched. Additionally, we identified extensive AS events in the skin tissue of Mitf mutant mice, including 97 A3, 85 A5, 101 AF, 42 AL, 8 MX, 44 RI, and 184 SE events (P < 0.05), suggesting AS events may contribute to the pigment distribution patterns in Mitf p.R324del mutation mice. Furthermore, we observed downregulation of Dct, Mlana, and Snai2, which indicates that Mitf mutations disrupt neural crest cells into melanocytes, melanosome structure, and melanin biosynthesis. Overall, our results support that variation in gene expression and AS are important and complementary mechanisms governing pigmentation defects in WS.

OBJECTIVE:This study reports a novel heterozygous, likely truncating mutation in the diaphanous homolog 1 (DIAPH1) gene associated with non-syndromic hearing loss. METHODS:Family members underwent audiological and imaging assessments, whole-exome sequencing (WES), and Sanger sequencing. RESULTS:Sensorineural hearing loss was observed in all five individuals, with severity ranging from mild to severe. None of the affected patients reported vestibular complaints, and routine blood tests showed normal platelet counts. Whole-exome sequencing (WES) revealed a novel frameshift variation, c.3555delA (p.Gln1185Hisfs*3), in exon 26 of the DIAPH1 gene. This variation co-segregated with the hearing-impaired phenotype in the family. The data collected support the classification of c.3555delA as a genetic etiology of hereditary hearing loss according to the American College of Medical Genetics and Genomics guidelines. CONCLUSION:We identified a novel pathogenic mutation in the DIAPH1 gene, thereby expanding the mutation spectrum associated with hearing loss.

Waardenburg Syndrome (WS) is a rare genetic disorder that leads to congenital hearing loss and pigmentation defects. Microphthalmia-associated transcription factor (MITF) is one of its significant pathogenic genes. Despite the comprehensive investigation in animal models, the pathogenic mechanism is still poorly described in humans due to difficulties accessing embryonic tissues. In this work, we used induced pluripotent stem cells derived from a WS patient carrying a heterozygous mutation in the MITF gene c.626A>T (p.His209Leu), and differentiated toward melanocyte lineage, which is the most affected cell type involved in WS. Compared with the wild-type cell line, the MITFmut cell line showed a reduced expression of the characteristic melanocyte-related genes and a lesser proportion of mature, fully pigmented melanosomes. The transcriptome analysis also revealed widespread gene expression changes at the melanocyte stage in the MITFmut cell line. The differentially expressed genes were enriched in melanogenesis and cell proliferation-related pathways. Interestingly, ion transport-related genes also showed a significant difference in MITFmut-induced melanocytes, indicating that the MITF mutant may lead to the dysfunction of potassium channels and transporters produced by intermediate cells in the cochlea, further causing the associated phenotype of deafness. Altogether, our study provides valuable insights into how MITF mutation affects WS patients, which might result in defective melanocyte development and the related phenotype based on the patient-derived iPSC model.

Objective:To study the feasibility and efficacy of using a tympanic cartilage shaping device in endoscopic type Ⅰ tympanoplasty. Methods:A tympanic cartilage shaper was designed and manufactured by measuring tympanic membrane dimensions with HRCT imaging for cutting and shaping cartilage to repair the tympanic membrane. From August 2019 to October 2021, 66 patients（72 ears） with chronic suppurative otitis media in Xiangya Hospital underwent endoscopic type Ⅰ tympanoplasty with this tympanic cartilage shaping device, and were observed the tympanic membrane healing and hearing recovery effect after surgery. Postoperative follow-up ranged from 3-24 months, with an average of 9 months. The data were analyzed by the SPSS 26.0 software. Results:According to the imaging measurements, tympanic pars tensa width（8.60±0.20） mm, height（8.64±0.19） mm, design and manufacture a cylindrical cartilage shaping device with inner diameter 8.60 mm. After tympanoplasty, the healing rate of tympanic membrane was 100%; The average air-bone gap before surgery was（23.10±7.33） dB, then（14.30±6.40） dB 1 month after surgery, which were significant reduced compared with those before surgery. The average air-bone gap was（14.30±6.40） dB 3 month after surgery compared with 1 month after surgery, the difference was also statistically significant（t=6.630, P<0.05）. Conclusion:The tympanic membrane cartilage shaper shaping cartilage in endoscopic tympanoplasty is simple, stable and reliable, which can reduce the time of graft cartilage processing, improve the efficiency of surgery, and restore the tympanic membrane morphology and function in the postoperative period.

Waardenburg syndrome type 1 (WS1) is a hereditary disease mainly characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary defects. To elucidate molecular mechanisms underlying PAX3-associated hearing loss, we developed inner ear organoids model using induced pluripotent stem cells (iPSCs) derived from WS1 patient and healthy individual. Our results revealed a significant reduction in the size of inner ear organoids, accompanied by an increased level of apoptosis in organoids derived from WS1 patient-iPSCs carrying PAX3 c.214A > G. Transcriptome profiling analysis by RNA-seq indicated that inner ear organoids from WS1 patients were associated with suppression of inner ear development and WNT signaling pathway. Furthermore, the upregulation of the WNT1/β-catenin pathway which was achieved through the correction of PAX3 isogenic mutant iPSCs using CRISPR/Cas9, contributed to an increased size of inner ear organoids and a reduction in apoptosis. Together, our results provide insight into the underlying mechanisms of hearing loss in WS.

BackgroundSudden sensorineural hearing loss (SSNHL) can cause great panic in patients. Whether it is advantageous to add intravenous batroxobin in the treatment of SSNHL remains to be determined. This study aimed to compare the short-term efficacy of therapy combined with intravenous batroxobin and that without intravenous batroxobin in SSNHL patients.MethodsThis retrospective study harvested the data of SSNHL patients hospitalized in our department from January 2008 to April 2021. The hearing levels on the admitted day (before treatment) and the discharge day were considered pre-treatment hearing and post-treatment hearing, respectively. The hearing gain was the difference value of pre-treatment hearing and post-treatment hearing. We used Siegel's criteria and the Chinese Medical Association of Otolaryngology (CMAO) criteria to evaluate hearing recovery. The complete recovery rate, overall effective rate, and hearing gain at each frequency were considered outcomes. Propensity score matching (PSM) was conducted to balance the baseline characteristics between the batroxobin group and the non-batroxobin group. Sensitivity analysis was carried out in flat-type and total-deafness SSNHL patients.ResultsDuring the study period, 657 patients with SSNHL were admitted to our department. Among them, a total of 274 patients met the enrolled criteria of our study. After PSM, 162 patients (81 in each group) were included in the analysis. Once the hospitalized treatment was completed, the patients would be discharged the next day. Logistic regression analysis of the propensity score-matched cohort indicated that both the complete recovery rates [Siegel's criteria, OR: 0.734, 95% CI: 0.368–1.466, p = 0.381; CMAO criteria, OR: 0.879, 95% CI: 0.435–1.777, p = 0.720] and the overall effective rates [Siegel's criteria and CMAO criteria, OR: 0.741, 95% CI: 0.399–1.378, p = 0.344] were not significantly different between the two treatment groups. Sensitivity analysis has shown similar results. For flat-type and total-deafness SSNHL patients, no significant difference was found in post-treatment hearing gain at each frequency between the two groups after PSM.ConclusionThere was no significant difference in short-term hearing outcomes between treatment with batroxobin and treatment without batroxobin in SSNHL patients by Siegel's and CMAO criteria after PSM. Future studies for better therapy regimens of SSNHL are still needed.

OBJECTIVES To summarize the clinical characteristics of glomus tympanicum tumors, and to explore the surgical methods and the strategy for auditory protection. METHODS Ten cases (ears) of glomus tympanicum tumors were collected from the Department of Otolaryngology Head and Neck Surgery, Xiangya Hospital, Central South University from August 2014 to February 2022. All patients underwent endoscopic or microscopic surgery to achieve total removal of the tumor, followed up for 3 months to 8 years. We summarized and analyzed its clinical characteristics, compared the preoperative and postoperative hearing levels of patients, and made a retrospective summary of the surgical methods and the strategy for auditory protection. RESULTS Ten patients were all female at (49.50±8.00) years old. Their medical history ranged from 15 days to 6 years. Seven patients complained of pulsatile tinnitus, and 80% (8/10) of the affected ears suffered different degrees of hearing loss. According to the modified Fisch & Mattox classification of glomus tympanicum tumors, 3 ears (30%) of 10 ears were A1, 2 ears (20%) were A2 and 5 ears (50%) were B1. In all 10 cases (ears), hearing was improved in 3 cases, bone gas conductance was maintained in 6 cases, and hearing was slightly decreased in 1 case. The difference of bone gas conductance was 0-10 dB in 7 cases (ears) after operation, and 10-20 dB in 3 cases (ears). There was no significant difference in the average air conduction hearing threshold, bone conduction hearing threshold and air-bone conduction difference between before and after operation (all P>0.05). All cases had no postoperative complications, and the external auditory canal and the incision behind the ear healed well. There was no recurrence after follow-up. CONCLUSIONS Glomus tympanicum tumor is easy to bleed, so it is a challenge for total tumor resection and hearing function protection during operation. For type A and type B1 tumors, they can be completely removed under the condition of keeping the tympanic membrane and the ossicular chain. At the same time, the postoperative hearing function can be preserved, and even the hearing can be improved.

Hereditary hearing loss has a genetic and phenotypic heterogeneity. However, it is still difficult to explain this heterogeneity perfectly with known deafness genes. Here, we report a novel causative gene EPHA10 as well as its non-coding variant in 5' untranslated region identified in a family with post-lingual autosomal dominant non-syndromic hearing loss from southern China. One affected member of this family had an ideal hearing restoration after cochlear implantation. We speculated that there were probable deafness-causing abnormalities in the cochlea according to clinical imaging and auditory evaluations. A heterozygous variant c.-81_-73delinsAGC was found co-segregating with hearing loss. Epha10 was expressed in mouse cochlea at both transcription and translation levels. The variant caused upregulation of EPHA10 which may result from promoter activity enhancement after sequence change. Overexpression of Eph (the homolog of human EPHA10) exerted effects on the structure and function of chordotonal organ in fly model. In summary, our study linked pseudo-kinase EPHA10 to hearing loss in humans for the first time.

The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. However, the etiology has yet to be completely elucidated. In this study, we generated a patient-derived iPSC line carrying ELMOD3 c.512A>G mutation. In addition, the patient-derived iPSC line was corrected by CRISPR/Cas9 genome editing system. Then we applied RNA sequencing profiling to compare the patient-derived iPSC line with different controls, respectively (the healthy sibling-derived iPSCs and the CRISPR/Cas9 corrected iPSCs). Functional enrichment and PPI network analysis revealed that differentially expressed genes (DEGs) were enriched in the gene ontology, such as sensory epithelial development, intermediate filament cytoskeleton organization, and the regulation of ion transmembrane transport. Our current work provided a new tool for studying how disruption of ELMOD3 mechanistically drives hearing loss.

课程思政与医学专业教育有机融合是加强医学高等教育中思政教育的重要方式,可围绕政治认同、家国情怀、文化素养和道德修养等开展思政教育.本文通过挖掘耳鼻咽喉科特色的思政元素,应用"引导启发式"互动教学等方式将思政元素融入《听力辅助技术》课程,初步探索专业知识传授与价值引领有机结合的途径,为深度挖掘提炼耳鼻咽喉科专业知识体系中所蕴含的思想价值和精神内涵提供参考,旨在让医学生在耳鼻咽喉专业课程中树立积极正确的"四个认同"、塑造良好的职业道德、奠定一定的未来岗位胜任力.

Objective: To analyze the surgical efficacy of patients with mixed hearing loss and otosclerosis with different air bone gap (ABG) before surgery, and to provide reference for the prognosis evaluation of otosclerosis surgery. Methods: The clinical data of 108 cases(116 ears) of otosclerosis who had undergone stapes fenestration technique artificial stapes implantation in Xiangya Hospital of Central South University from November 2013 to May 2020 and had mixed hearing loss before surgery were collected, including 71 women(76 ears)and 37 men (40 ears), with an average age of 38.5 years. According to preoperative pure tone audiometry ABG, they were divided into three groups: group S, 15 dB≤ABG<31 dB, a total of 39 ears; group M, 31 dB≤ABG<46 dB, a total of 58 ears; and group L, ABG≥46 dB, 19 ears in total. The hearing outcomes of three groups of patients at 6-12 months after surgery were compared and analyzed using SPSS 24.0 statistical software. Results: A total of 3 patients (group S: 2 cases; group L: 1 case) experienced severe sensorineural hearing loss after surgery and were not included in the statistical analysis. After surgery, the pure tone hearing threshold of patients with otosclerosis in each group was significantly improved compared to before surgery, with an average air conduction threshold improvement of(21.6±13.4) dB. The difference between before and after surgery was statistically significant(t=17.13, P<0.01). The average bone conduction threshold improved by(3.7±7.6) dB, and the difference was statistically significant before and after surgery(t=5.20, P<0.01). The postoperative ABG was(18.3±9.3) dB, which was significantly reduced compared to preoperative(36.2±8.6)dB. Among the three groups of patients, the L group had the highest improvement in air conduction threshold[(29.9±10.8)dB], while the S group had the lowest improvement[(15.7±11.4)dB]. There was no statistically significant difference in post operative pure tone hearing thresholds between the three groups(P>0.05). The postoperative ABG in group S was the smallest[(16.5±9.0)dB], while in group L, the postoperative ABG was the largest[(20.5±10.0)dB]. Compared with group S, group M and group L still had a large residual ABG at 2 000 Hz after surgery. The bone conduction threshold of both S and M groups improved to some extent after surgery compared to before (P<0.01). Conclusions: Surgery can benefit patients with mixed hearing loss and otosclerosis with different preoperative ABG. Patients with small preoperative ABG have better surgical results and ideal ABG closure at all frequencies after surgery. Patients with large preoperative ABG can significantly increase the gas conduction threshold during surgery, but certain frequencies of ABG may still be left behind after surgery. The improvement effect of surgery on bone conduction threshold is not significant. Patients should be informed of treatment methods such as hearing aids based on their actual situation for selection.

Objectives. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. Methods. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement. Results. A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband. Conclusion. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.

Objective:To summarize the clinical characteristics of elderly patients with chronic suppurative otitis media who underwent type Ⅰ tympanoplasty, and to analyze for the first time the efficacy of type Ⅰtympanoplasty in elderly patients from multiple perspectives of medical data and patient evaluation, so as to provide reference for doctors and patients to make rational decisions on treatment methods. Methods:Forty-four elderly patients（45 ears） who underwent type Ⅰtympanoplasty from May 2016 to February 2022 were retrospectively analyzed, and were followed up for 6 months to 3 years. To analyze the clinical characteristics of patients, summarize the success rate of graft, and compare the hearing level of patients before and after surgery. The patients' quality of life before and after operation was evaluated by Chronic Ear Survey, and the scores obtained were statistically analyzed. Results:Of the 44 patients（45 ears）, 22.22%（10/45） of the ears had predisposing factors. The percentage of hearing loss, ear pus and tinnitus were 91.11%（41/45）, 88.89%（40/45） and 42.22%（19/45）, respectively. Mixed deafness accounted for 55.56%（25/45）. 66.67%（30/45） patients were diagnosed as tympanosclerosis by operation. The graft success rate was 97.78%. There was no significant difference in bone conduction hearing threshold before and after surgery, but there was significant difference in air conduction hearing threshold and air bone conduction difference. The scores of "activity restriction", "symptom", "medical resource utilization" and their total scores of the preoperative and postoperative were statistically different. Hypertension or diabetes had no significant effect on the efficacy of type Ⅰ tympanoplasty in elderly patients. Conclusion:Type Ⅰtympanoplasty is safe and effective in elderly patients, and the quality of life of patients after surgery is significantly improved. It is necessary to increase the awareness of elderly patients to seek medical advice and use surgical methods reasonably to treat chronic suppurative otitis media.

PURPOSE:This study aimed to determine the risk factors associated with early postoperative complications of trans-canal endoscopic ear surgery (TEES), then to develop a risk index.MATERIALS AND METHODS:This single-institution retrospective study reviewed TEESs from January 1, 2017, to December 31, 2019 in a tertiary hospital. In the derivation cohort, univariable and multivariable logistic regression were performed to identify factors significantly associated with early postoperative complications of TEES. Then these parameters were integrated into a trans-canal endoscopic ear surgery risk index (TEESRI). The performance of TEESRI was compared with that of the American Society of Anesthesiologists (ASA) classification using the validation cohort.RESULTS:932 TEESs were enrolled in total and 151 (16.2%) developed early postoperative complications. In the derivation set, 8 factors including state of the opposite ear and presence of nasal or pharyngeal diseases were found to be independently associated with the occurrence of early postoperative complications on multivariable regression analysis [area under the curve (AUC), 0.806; 95% confidence interval (CI), 0.765-0.848]. Using the validation cohort, the AUC of the TEESRI was 0.776 [95%CI, 0.711-0.842], with a sensitivity of 82.2% and specificity of 65.5%, while the AUC of the ASA classification was 0.512 (95%CI, 0.421-0.603). The TEESRI outperformed the ASA classification when evaluating the risk for early postoperative complications of TEES.CONCLUSIONS:Based on the 8 risk factors, the TEESRI was established with satisfactory predicting capacity. Surgeons should pay extra attention to the risk factors in the TEESRI, when treating patients.

Background Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the genetic cause in eight Chinese WS families (including three familial and five sporadic cases). Further genotype–phenotype relationships were also investigated. Methods All probands underwent screening for the known WS-related genes including PAX3 , SOX10 , MITF , EDNRB , EDN3 , and SNAI2 using next-generation sequencing to identify disease-causing genes. Further validation using Sanger sequencing was performed. Relevant findings for the associated genotype–phenotype from previous literature were retrospectively analyzed. Result Disease-causing variants were detected in all eight probands by molecular genetic analysis of the WS genes ( SOX10 (NM_006941.4): c.544_557del, c.553 C > T, c.762delA, c.336G > A; MITF (NM_000248.3): c.626 A > T; PAX3 (NM_181459.4): c.838delG, c.452-2 A > G, c.214 A > G). Six mutations ( SOX10 :c.553 C > T, c.544_557del, c.762delA; PAX3 : c.838delG, c.214 A > G; MITF :c.626 A > T) were first reported. Clinical evaluation revealed prominent phenotypic variability in these WS patients. Twelve WS1 cases and five WS2 cases were diagnosed in total. Two probands with SOX10 mutations developed progressive changes in iris color with age, returning from pale blue at birth to normal tan. Additionally, one proband had a renal malformation (horseshoe kidneys).All cases were first described as WS cases. Congenital inner ear malformations were more common, and semicircular malformations were exclusively observed in probands with SOX10 mutations. Unilateral hearing loss occurred more often in cases with PAX3 mutations. Conclusion Our findings helped illuminate the phenotypic and genotypic spectrum of WS in Chinese populations and could contribute to better genetic counseling of WS.

目前已发现与非综合征型聋相关的致病基因有120 余个(http://hereditaryhearingloss.org),其中群体凝血因子 C 同源物(coagulation factor C ho-mology,COCH)基因是首个被报道伴有前庭功能障碍的常染色体显性遗传性非综合征型聋,即 DF-NA9(deafness autosomal dominant 9)型聋致病基因.迄今为止文献共报道了 27 个与 DFNA9 相关的COCH 基因突变致病位点,并发现其突变位点与听力和前庭表型密切相关[1～4].此外,还发现其与梅尼埃病、自身免疫性内耳疾病以及原发开角型青光眼相关联.近年来,基因表达产物 cochlin蛋白亚型CTP(cochlin tomoprotein)作为首个诊断外淋巴瘘的金标准也逐步开始应用[5].COCH 基因结构功能、动物模型及致病机制的研究对遗传性聋和多种相关疾病的诊断与防治具有重要意义,但是目前其功能与机制仍不十分明确,故本文对 COCH 基因在遗传性聋中的最新研究进展及其与多种相关疾病的联系进行综述,以加深对 COCH 基因型-表型的相关性认识并协助临床相关疾病的诊疗.

The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene. It manifests in their children as Enlarged vestibular aqueduct (EVA). The use of iPSC will allow describing the early stages of hearing loss, which is undoubtedly relevant for identifying key stages of development at which phenotypic manifestations of mutations in the SLC26A4 gene are found.