The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of PTPRQ-associated HL and may be relevant in clinical practice.

Objective: To describe a case of traumatic pneumolabyrinth and subsequent hearing recovery after ejection of air with transcanal endoscopic surgical exploration. Patients: A 38-year-old man was struck by his child while cleaning his ear with an ear pick made of bamboo, which penetrated deep into the left ear canal. Severe vertigo with vomiting and left hearing impairment ensued. In addition, high-resolution computed tomography demonstrated an air density within the vestibule. Interventions: Exploratory tympanotomy was performed endoscopically a day after the injury and air was ejected from the oval window surgically. Main Outcome Measures: High-resolution computed tomography, audiologic testing. Results: Several hours after surgery, the patient's subjective vestibular symptoms lessened and 7 days after surgery, the patient felt slight dizziness when moving his head and no apparent spontaneous nystagmus was observed with an infrared charge-coupled device camera and was discharged from the hospital. Two years later, there are no subjective vestibular symptoms at all and the pure-tone average of his left ear improved to 16.7 dB. Conclusion: We presented a case of traumatic pneumolabyrinth and the subsequent hearing recovery after ejection of air following endoscopic exploratory tympanotomy. We propose that initial management for traumatic pneumolabyrinth should be ejection of the air bubble if it is located solely in the vestibule and sparing the cochlea.

Objective: Habitual sniffing resulting from insufficient Eustachian tube closure is an important etiologic factor in the development and postoperative recurrence of pars flaccida cholesteatoma. In this study, we aimed to investigate the prevalence and clinical characteristics of cholesteatoma associated with habitual sniffing (sniff-related cholesteatoma) among patients with surgically indicated pars flaccida cholesteatoma. Study design: Prospective, multicenter, observational study. Setting: Twenty-six tertiary otologic referral centers. Patients: A total of 128 consecutive patients aged 15 years or above with newly diagnosed pars flaccida cholesteatoma (stage Ib or higher according to the Japan Otological Society staging system) were included. Interventions: None. Main outcome measures: The primary outcome was the prevalence of sniff-related cholesteatoma among patients with surgically indicated pars flaccida cholesteatoma. Patients were classified into 3 groups based on the presence of habitual sniffing episodes and the results of the sniffing test: sniff-related cholesteatoma (both positive), non–sniff-related cholesteatoma (both negative), and others. Demographic and clinical characteristics, including age and sex, were compared among the 3 groups. Results: Among the 128 patients, 53 (41.4%) were classified as having sniff-related cholesteatoma. Furthermore, patients in the sniff-related cholesteatoma group were significantly younger than those in the non–sniff-related group. Conclusions: Approximately 40% of patients with surgically indicated pars flaccida cholesteatoma had sniff-related cholesteatoma, suggesting an association with insufficient Eustachian tube closure. The careful assessment of habitual sniffing may be essential for elucidating disease pathophysiology and optimizing treatment strategies, including postoperative management.

Background/Objectives: MYH9 gene variants cause MYH9-related disease (MYH9-RD), which is also known as Epstein syndrome, Fechtner syndrome, May–Hegglin anomaly, and Sebastian syndrome. MYH9-RD is characterized by sensorineural hearing loss, macrothrombocytopenia, thrombocytopenia, hematuria/proteinuria, glomerulonephritis, cataracts purpura, and mucosal bleeding. In addition, the MYH9 gene is also known to be causative of autosomal dominant non-syndromic hearing loss (DFNA17). MYH9-RD is a relatively rare disorder, and the detailed clinical features and mutational spectra remain unclear. Methods: In this study, we performed next-generation sequencing analysis for 15,684 hearing loss patients and identified MYH9-associated hearing loss patients. Detailed clinical information was collected for these patients and summarized. Results: In this study, we identified 24 patients from 18 families with MYH9-associated hearing loss. We clarified the details of hearing deterioration observed in patients based on collected serial audiogram data. Some cases showed rapid hearing deterioration that worsened by about 50 dB within 5 years. Hearing loss is more likely to progress in patients with myosin head domain variants than in patients with myosin tail domain variants, but hearing loss in each set of patients finally deteriorates to bilateral profound hearing loss. Conclusions: In this study, we were able to clarify the detailed characteristics of MYH9-RD- and DFNA17-related hearing loss in a relatively large number of patients, particularly in some cases that showed rapid and asymmetrical hearing deterioration progressing to bilateral profound hearing loss. Our data will be useful for providing more appropriate treatment and follow-up for MYH9-associated hearing loss.

Background/Objectives: The P2RX2 gene encoding an ATP-gated ion channel purinoreceptor is a genetic cause of autosomal dominant non-syndromic hearing loss (DFNA41). P2RX2 is a rare causative gene and its detailed clinical characteristics remain unclear. Methods: In this study, we performed next-generation DNA sequencing analysis covering 158 genes previously reported to be associated with non-syndromic and syndromic hearing loss in 18,475 patients. Results: We identified 29 patients from 22 independent families carrying candidate P2RX2 variants. All of the patients showed late-onset progressive hearing loss. In addition, several cases showed asymmetric hearing deterioration. Among the 29 patients, 23 from 19 unrelated families carried the same c.1057G>A variant, which was identified as a founder mutation by SNP-based haplotype analysis. Conclusions: Our findings indicate that late-onset asymmetric progressive hearing deterioration is a characteristic/unique feature of P2RX2-associated hearing loss, which may be related to noise exposure. Our results may be useful in further clarifying the natural history of and optimizing the management strategies for P2RX2-related hearing loss.