Practicality of multilayer round window reinforcement in the surgical management of superior semicircular canal dehiscence syndrome: a case report of long-term follow-up.

Several surgical techniques have been documented for approaching and repairing superior semicircular canal dehiscence syndrome (SCDS). These techniques encompass the trans-middle cranial fossa, transmastoid, endoscopic approaches, and round window reinforcement (RWR). RWR entails the placement of connective tissue with or without cartilage and around the round window niche, restricting the round window's movement to minimize the 3rd window effect and restore the bony labyrinth closer to its normal state. We employed the multilayer RWR technique, resulting in significant postoperative improvement and long-lasting effects for 3.7 years in 2 cases. Here, we present the clinical findings, surgical procedures, and the effectiveness of multilayer RWR. This technique can be the initial choice for surgical treatments of SCDS due to its high effectiveness, longer-lasting effect, and minimal risk of surgical complications.

Clinical practice guidelines for the diagnosis and management of acute sensorineural hearing loss.

OBJECTIVE: Acute sensorineural hearing loss represents a spectrum of conditions characterized by sudden onset hearing loss. The "Clinical Practice Guidelines for the Diagnosis and Management of Acute Sensorineural Hearing Loss" were issued as the first clinical practice guidelines in Japan outlining the standard diagnosis and treatment. The purpose of this article is to strengthen the guidelines by adding the scientific evidence including a systematic review of the latest publications, and to widely introduce the current treatment options based on the scientific evidence. METHODS: The clinical practice guidelines were completed by 1) retrospective data analysis (using nationwide survey data), 2) systematic literature review, and 3) selected clinical questions (CQs). Additional systematic review of each disease was performed to strengthen the scientific evidence of the diagnosis and treatment in the guidelines. RESULTS: Based on the nationwide survey results and the systematic literature review summary, the standard diagnosis flowchart and treatment options, including the CQs and recommendations, were determined. CONCLUSION: The guidelines present a summary of the standard approaches for the diagnosis and treatment of acute sensorineural hearing loss. We hope that these guidelines will be used in medical practice and that they will initiate further research.

Clinical course of five patients definitively diagnosed with idiopathic perilymphatic fistula treated with transcanal endoscopic ear surgery.

Objectives: An idiopathic perilymphatic fistula (PLF) can be difficult to diagnose because patients present with sudden sensorineural hearing loss (SSHL) and/or vestibular symptoms without any preceding events. In such cases, we currently test for cochlin-tomoprotein (CTP) to confirm the diagnosis of idiopathic PLF because CTP is only detected in the perilymph. In this study, we report the clinical course of five patients definitively diagnosed with idiopathic PLF who underwent PLF repair surgery using transcanal endoscopic ear surgery (TEES). Patients and methods: Five patients were initially treated with intratympanic dexamethasone for SSHL, at which time a CTP test was also performed (preoperative CTP test). Due to refractory hearing loss and/or fluctuating disequilibrium, PLF repair surgery using TEES was performed to seal the oval and round windows using connective tissue and fibrin glue. These patients were diagnosed with definite idiopathic PLF based on pre- or intra-operative CTP test results (negative, < 0.4 ng/mL; intermediate, 0.4-< 0.8 ng/mL; and positive, > 0.8 ng/mL). We evaluated pre- and intra-operative CTP values, intraoperative surgical findings via a magnified endoscopic view, and pre- and post-operative changes in averaged hearing level and vestibular symptoms. Results: Pre- and intra-operative CTP values were positive and intermediate in three patients, positive and negative in one patient, and negative and positive in one patient. None of the patients had intraoperative findings consistent with a fistula between the inner and middle ears or leakage of perilymph. Only two patients showed a slight postoperative recovery in hearing. Four patients complained of disequilibrium preoperatively, of whom two had resolution of disequilibrium postoperatively. Conclusion: A positive CTP test confirms PLF in patients without obvious intraoperative findings. The CTP test is considered more sensitive than endoscopic fistula confirmation. We consider that CTP test results are important indicators to decide the surgical indication for idiopathic PLF repair surgery. In our experience with the five cases, two of them showed improvements in both hearing and vestibular symptoms.

Diagnostic utility of cytology in a patient with Epstein-Barr virus-positive mucocutaneous ulcer in palatine tonsils: A case report.

Epstein-Barr virus-positive mucocutaneous ulcer (EBVMCU) is a newly established immunodeficiency-related disease. Herein, we report a case of EBVMCU and focus on its cytological usefulness for diagnosis. An 82-year-old man manifested pharyngalgia, dysphagia, and oral pain. His medical history included rheumatoid arthritis that had been treated with methotrexate. Clinically, peritonsillar abscess was suspected, but since neoplastic lesions, including malignant lymphoma (ML), could not be excluded, a series of cytohistological examination was attempted. Despite some alarming findings (e.g., frequent mitoses), fine-needle aspiration and touch imprint cytology consistently revealed a heterogeneous population of lymphoid and plasmacytoid cells with mild nuclear atypia. The final diagnosis of EBVMCU was established based on the permanent histologic specimen; however, retrospectively, cytology was more representative of the benign nature of the lesion than histology, helping a great deal to differentiate it from ML. Cytology can be a useful tool for the correct diagnosis of EBVMCU.

Prevalence of perilymphatic fistula in patients with sudden-onset sensorineural hearing loss as diagnosed by Cochlin-tomoprotein (CTP) biomarker detection: its association with age, hearing severity, and treatment outcomes.

PURPOSE: To determine the prevalence of perilymphatic fistula (PLF) in sudden-onset sensorineural hearing loss (SSNHL) patients by employing the Cochlin-tomoprotein (CTP) detection test, a specific diagnostic marker for perilymph. We also analyzed the clinical characteristics associated with hearing outcomes in this cohort. METHODS: A total of 74 eligible patients were prospectively enrolled. Following myringotomy, middle ear lavage (MEL) samples underwent the CTP test to identify perilymph leakage. Intratympanic dexamethasone (IT-DEX) therapy was administered, and hearing outcomes were assessed. Control groups comprised patients with chronic otitis media (n = 40) and non-inflammatory middle ears (n = 51) with concurrent MEL sample collection. RESULTS: CTP was positive in 16 (22%) patients. No control samples showed positive results. Multiple regression analysis indicated that age and pre-treatment hearing levels significantly contributed to the CTP value. We found a positive correlation between CTP values, age, and pre-treatment pure-tone averages. Notably, CTP values in SSNHL cases aged 60 and above were significantly higher than in those below 60 years. Patients with positive CTP had significantly worse recovery rates after IT-DEX treatment. CONCLUSION: This study is the first prospective investigation demonstrating a positive relationship between CTP values, age, and hearing severity in SSNHL, indicating that PLF might be the essential cause of SSNHL, particularly in the elderly. Our findings suggest that IT-DEX may be less effective for PLF-associated SSNHL. Future research could reveal that PLF repair surgery is a viable treatment strategy for SSNHL. This study was registered under the UMIN Clinical Trials Registry (UMIN000010837) on 30/May/2013.

Objective Assessment of Perilymphatic Fistula in Cases of Postoperative Vertigo after Cochlear Implantation by Cochlin Tomoprotein (CTP).

OBJECTIVE: Vertigo is a quite frequent complication after cochlear implantation. Perilymphatic fistula (PLF) is assumed to be one cause of this problem. Cochlin tomoprotein (CTP) is a newly introduced marker for PLF. The present aim was to evaluate the rate of positive CTP testing in cases of newly occurring vertigo after cochlear implantation. MATERIALS AND METHODS: Twelve patients with vertigo after cochlear implantation and a revisional electrode-sealing procedure underwent intraoperative rinsing of their middle ear. The sample was evaluated for CTP with monoclonal antibody testing. Sixteen controls from six CI patients were taken. RESULTS: 4 out of 12 (33%) cases showed positive CTP testing, indicating that a PLF could be evaluated. In all of the positive CTP cases, surgery decreased the vertigo symptoms. A relation between the subjective visual assessment of a fistula and a positive CTP value was not observed. Controls confirmed the value of the testing. DISCUSSION: CTP detection objectively shows that PLF can occur in patients with vertigo after CI.

Assessing the efficacy of perilymphatic fistula repair surgery in alleviating vestibular symptoms and associated auditory impairments.

Perilymph Fistula (PLF), abnormal communication between the fluid-filled space of the inner ear and the air-filled space of the middle ear, is a significant cause of vestibular and auditory symptoms. This is a retrospective study of 22 cases treated with PLF repair surgery, selected based on our surgical indication. We analyzed the characteristics of these 22 cases and evaluated the efficacy of PLF repair surgery in treating vestibular and auditory symptoms. Cases with antecedent events had significantly shorter intervals before surgery. The postoperative recovery from vestibular symptoms following PLF repair surgery was strikingly rapid, with 82% of cases demonstrating marked improvement within a week, even in chronic cases. Despite the notable absence of a control group in the study, the marked improvements in vestibular symptoms and substantial reductions in Dizziness Handicap Inventory (DHI) scores suggest that the observed benefits are attributable to the surgical intervention. Further, timely surgery showed improvements in hearing, with some benefits also seen in late-stage surgeries. Using the perilymph-specific protein Cochlin-tomoprotein (CTP) as a diagnostic biomarker, we could prove that PLF could be responsible for disequilibrium and related auditory disturbances in these patients. A new hypothesis is proposed that the chronic disequilibrium experienced by many PLF patients is due to enhanced mobility of the utricle and not to endolymphatic hydrops. Further research is needed to fully elucidate PLF's symptoms and treatment efficacy using the surgical indication we developed.

Surgical Treatment for Empty Nose Syndrome Using Autologous Dermal Fat: Evaluation of Symptomatic Improvement.

Background: Empty nose syndrome (ENS) is caused by nasal turbinate surgery. The standard treatment for ENS is an inferior meatus augmentation procedure (IMAP) in which autologous tissue such as auricular cartilage, rib cartilage, or artificial material is transplanted into the nasal cavity. However, some challenges like a very small auricular cartilage are associated with these autologous tissue types. Moreover, since using rib cartilage is a highly invasive technique, the scar on the chest from where the harvesting is done is easily visible, and the artificial material is susceptible to infection. We used autologous dermal fat (ADF) in IMAPs in our study for the following reasons: the quantity of ADF could be increased or reduced as needed, ADF is considered a safer option than rib cartilage because it is harvested from superficial tissue, it is superior in terms of cosmetic appearance to harvested rib cartilage, and it has a lower risk of infection than any artificial material.Objective: The purpose of our study was to investigate the efficacy and safety of IMAPs using ADF.Methods: We included nine patients with ENS who underwent an IMAP using ADF. The patients' backgrounds and responses to the Empty Nose Syndrome 6-Item Questionnaire (ENS6Q) were recorded. Changes in each item of the ENS6Q before and after surgery (up to 3 months) were analyzed.Results: The postoperative ENS6Q total score and parameters were significantly better than their preoperative counterparts. Nasal dryness improved slightly less than other symptoms. There were no complications.Conclusions: The IMAP using ADF was effective in improving ENS symptoms; however, some physiological functions were difficult to improve, and dryness persisted. Autologous dermal fat is larger than auricular cartilage, less invasive than rib cartilage, and has a lower risk of infection than artificial material.

A 14-year nationwide epidemiological analysis of delayed endolymphatic hydrops in Japan.

BACKGROUND: Delayed endolymphatic hydrops (DEH) is an inner ear disease that causes recurrent vertigo in the ipsilateral ear or fluctuating hearing in the contralateral ear due to endolymphatic hydrops secondary to preceding deafness. There are few reports of large, multicentre studies investigating the clinical-epidemiological characteristics of DEH. OBJECTIVE: This study aimed to clarify the characteristics of DEH in Japan. METHODS: Clinical data on 662 patients with DEH were analysed by nationwide, multicentre surveys conducted by the Peripheral Vestibular Disorders Research Group of Japan. RESULTS: The proportion of ipsilateral DEH (IDEH) was slightly higher than that of contralateral DEH (CDEH) at 55.4%. The time delay between onset of precedent deafness and onset of DEH was significantly longer for CDEH than for IDEH. The most common cause of precedent deafness was a disease of unknown cause with onset in early childhood (33.1%). Epidemiological characteristics were not significantly different between CDEH with and without vertigo. CONCLUSION: DEH appearing to be caused by viral labyrinthitis has a high rate of onset within 40 years of precedent deafness. Clinical and epidemiological characteristics of IDEH, CDEH with vertigo, and CDEH without vertigo were very similar. SIGNIFICANCE: The clinical-epidemiological characteristics of DEH in Japan were clarified.

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype-phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.6%) showed a "typical" phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85-90% of the patients showed a hearing level of 20-39 dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed "true" auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype-phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype-phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients.

Signal and morphological changes in the endolymph of patients with vestibular schwannoma on non-contrast 3D FLAIR at 3 Tesla.

BACKGROUND: Non-contrast FLAIR revealed increased signal within the inner ear in patients with vestibular schwannoma, which is generally assumed to occur in the perilymph; however, the majority of previous studies did not differentiate between the endolymph and perilymph. Therefore, endolymph signal changes have not yet been investigated in detail. The purpose of the present study was three-fold: (1) to assess perilymph signal changes in patients with vestibular schwannoma on heavily T2-weighted (T2W) 3D FLAIR, also termed positive perilymphatic images (PPI), (2) to evaluate signal and morphological changes in the endolymph on PPI, and (3) to establish whether vertigo correlates with the signal intensity ratios (SIR) of the vestibular perilymph or vestibular endolymphatic hydrops. METHODS: Forty-two patients with unilateral vestibular schwannoma were retrospectively recruited. We semi-quantitatively and qualitatively evaluated the perilymph signal intensity on the affected and unaffected sides. We also quantitatively examined the signal intensity of the vestibular perilymph and assessed the relationship between vertigo and the SIR of the vestibular perilymph on the affected side. We semi-quantitatively or qualitatively evaluated the endolymph, and investigated whether vestibular hydrops correlated with vertigo. RESULTS: The perilymph on the affected side showed abnormal signal more frequently (signal intensity grade: overall mean 1.45 vs. 0.02; comparison of signal intensity: overall mean 36 vs. 0 cases) and in more parts (the entire inner ear vs. the basal turn of the cochlea and vestibule) than that on the unaffected side. No significant difference was observed in the SIR of the vestibular perilymph with and without vertigo (5.54 vs. 5.51, p = 0.18). The endolymph of the vestibule and semicircular canals showed the following characteristic features: no visualization (n = 4), signal change (n = 1), or vestibular hydrops (n = 10). A correlation was not observed between vestibular hydrops and vertigo (p = 1.000). CONCLUSIONS: PPI may provide useful information on signal and morphological changes in the endolymph of patients with vestibular schwannoma. Further research is warranted to clarify the relationship between vertigo and the MR features of the inner ear.

Congenital Membranous Stapes Footplate Producing Episodic Pressure-Induced Perilymphatic Fistula Symptoms.

Introduction: Recent third window syndrome studies have revealed that the intact bony labyrinth and differences in the stiffness of the oval and round windows are essential for proper cochlear and vestibular function. Herein we report a patient with a congenital dehiscence of the right stapes footplate. This dehiscence caused long-standing episodic pressure-induced vertigo (Hennebert sign). At the time of presentation, her increased thoracic pressure changes induced the rupture of the membranous stapes footplate. Perilymph leakage was confirmed by imaging and a biochemical test [perilymph-specific protein Cochlin-tomoprotein (CTP) detection test]. Case Report: A 32-year-old woman presented with a sudden onset of right-sided hearing loss and severe true rotational vertigo, which occurred immediately after nose-blowing. CT scan showed a vestibule pneumolabyrinth. Perilymphatic fistula (PLF) repair surgery was performed. During the operation, a bony defect of 0.5 mm at the center of the right stapes footplate, which was covered by a membranous tissue, and a tear was found in this anomalous membrane. A perilymph-specific protein CTP detection test was positive. The fistula in the footplate was sealed. Postoperatively, the vestibular symptoms resolved, and her hearing improved. A more detailed history revealed that, for 15 years, she experienced true rotational vertigo when she would blow her nose. After she stopped blowing her nose, she would again feel normal. Discussion: There is a spectrum of anomalies that can occur in the middle ear, including the ossicles. The present case had a dehiscence of the stapes, with a small membranous layer of tissue covering a bony defect in the center of the footplate. Before her acute presentation to the hospital, this abnormal footplate with dehiscence induced pathological pressure-evoked fluid-mechanical waves in the inner ear, which resulted in Hennebert sign. When patients have susceptibility (e.g., weak structure) to rupture, such as that identified in this case, PLF can be caused by seemingly insignificant events such as nose-blowing, coughing, or straining. Conclusion: This case demonstrates that PLF is a real clinical entity. Appropriate recognition and treatment of PLF can improve a patient's condition and, hence, the quality of life.

A Case of Perilymphatic Fistula with Inner Ear Anomaly Diagnosed Preoperatively by the Cochlin-Tomoprotein Detection Test.

We present a case of perilymphatic fistula (PLF) with inner ear anomalies having sudden, progressive sensorineural hearing loss and describe the fistula repair surgeries. We focus on the diagnosis methods of PLF and clinical course of PLF with inner ear anomaly. The cochlin-tomoprotein (CTP) detection test is very useful for the surgeons to encourage the earlier operation to sudden hearing loss cases. It is also helpful to define the diagnosis of PLF after operation. We could not get the good result as to hearing from the fistula repair surgery mainly because surgery was held 1 month after the onset. The results of the case, as well as recommendations of other reports, suggest that patients with sudden sensorineural hearing loss and PLF may need repair surgery within at most 2 weeks from the onset. We describe how to diagnose PLF more accurately using CTP detection combined with intraoperative findings.

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss.

Human ACTG1 mutations are associated with high-frequency hearing loss, and patients with mutations in this gene are good candidates for electric acoustic stimulation. To better understand the genetic etiology of hearing loss cases, massively parallel DNA sequencing was performed on 7,048 unrelated Japanese hearing loss probands. Among 1,336 autosomal dominant hearing loss patients, we identified 15 probands (1.1%) with 13 potentially pathogenic ACTG1 variants. Six variants were novel and seven were previously reported. We collected and analyzed the detailed clinical features of these patients. The average progression rate of hearing deterioration in pure-tone average for four frequencies was 1.7 dB/year from 0 to 50 years age, and all individuals over 60 years of age had severe hearing loss. To better understand the underlying disease-causing mechanism, intracellular localization of wild-type and mutant gamma-actins were examined using the NIH/3T3 fibroblast cell line. ACTG1 mutants p.I34M p.M82I, p.K118M and p.I165V formed small aggregates while p.R37H, p.G48R, p.E241K and p.H275Y mutant gamma-actins were distributed in a similar manner to the WT. From these results, we believe that some part of the pathogenesis of ACTG1 mutations may be driven by the inability of defective gamma-actin to be polymerized into F-actin.

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss.

MYO6 is known as a genetic cause of autosomal dominant and autosomal recessive inherited hearing loss. In this study, to clarify the frequency and clinical characteristics of hearing loss caused by MYO6 gene mutations, a large-scale genetic analysis of Japanese patients with hearing loss was performed. By means of massively parallel DNA sequencing (MPS) using next-generation sequencing for 8074 Japanese families, we found 27 MYO6 variants in 33 families, 22 of which are novel. In total, 2.40% of autosomal dominant sensorineural hearing loss (ADSNHL) in families in this study (32 out of 1336) was found to be caused by MYO6 mutations. The present study clarified that most cases showed juvenile-onset progressive hearing loss and their hearing deteriorated markedly after 40 years of age. The estimated hearing deterioration was found to be 0.57 dB per year; when restricted to change after 40 years of age, the deterioration speed was accelerated to 1.07 dB per year. To obtain supportive evidence for pathogenicity, variants identified in the patients were introduced to MYO6 cDNA by site-directed mutagenesis and overexpressed in epithelial cells. They were then assessed for their effects on espin1-induced microvilli formation. Cells with wildtype myosin 6 and espin1 co-expressed created long microvilli, while co-expression with mutant constructs resulted in severely shortened microvilli. In conclusion, the present data clearly showed that MYO6 is one of the genes to keep in mind with regard to ADSNHL, and the molecular characteristics of the identified gene variants suggest that a possible pathology seems to result from malformed stereocilia of the cochlear hair cells.

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.

TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed next-generation sequencing analysis of a large Japanese hearing loss cohort, including eight hundred and twelve (812) subjects from unrelated autosomal dominant hearing loss families, to estimate the prevalence and phenotype-genotype correlations in patients with TECTA mutations. The prevalence of TECTA mutations in Japanese autosomal dominant sensorineural hearing loss families was found to be 3.2%. With regard to the type of hearing loss, the patients with mutations in the nidogen-like domain or ZA domain of TECTA showed varied audiograms. However, most of the patients with mutations in the ZP domain showed mid-frequency hearing loss. The rate of hearing deterioration in TECTA-associated hearing loss patients and in the normal hearing Japanese control population were the same and regression lines for each group were parallel. We carried out haplotype analysis for four families which had one recurring missense variant, c.5597C>T (p.Thr1866Met). Our results revealed four different haplotypes, suggesting that this mutation occurred independently in each family. In conclusion, TECTA variants represent the second largest cause of autosomal dominant sensorineural hearing loss in Japan. The hearing loss progression observed in the patients with TECTA mutations might reflect presbycusis. The c.5597C>T mutation occurred in a mutational hot spot and is observed in many ethnic populations.

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF-related hearing loss in a large hearing loss population. A total of 2,265 Japanese sensorineural hearing loss (SNHL) patients compatible with autosomal recessive inheritance (including sporadic cases) from 53 otorhinolaryngology departments nationwide participated in this study. The mutation analysis of 68 genes, including the OTOF gene, reported to cause non-syndromic hearing loss was performed using MPS. Thirty-nine out of the 2,265 patients (1.72%) carried homozygous or compound heterozygous mutations in the OTOF gene. It is assumed that the frequency of hearing loss associated with OTOF mutations is about 1.72% of autosomal recessive or sporadic SNHL cases. Hearing level information was available for 32 of 39 patients with biallelic OTOF mutations; 24 of them (75.0%) showed profound hearing loss, 7 (21.9%) showed severe hearing loss and 1 (3.1%) showed mild hearing loss. The hearing level of patients with biallelic OTOF mutations in this study was mostly severe to profound, which is consistent with the results of past reports. Eleven of the 39 patients with biallelic OTOF mutations had been diagnosed with ANSD. The genetic diagnosis of OTOF mutations has significant benefits in terms of clinical decision-making. Patients with OTOF mutations would be good candidates for cochlear implantation; therefore, the detection of OTOF mutations is quite beneficial for patients, especially for those with ANSD.