Gene expression profiles of mRNA, lncRNA, miRNA, and circRNA and their clinical implications in chronic rhinosinusitis with nasal polyps.

BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a chronic inflammatory disease with complex pathophysiology and therapeutic strategies. Moreover, the molecular mechanisms underlying the pathogenesis of CRSwNP are incompletely understood. OBJECTIVE: This study aimed to investigate the transcriptomic characteristics, ceRNA networks, and whether these molecular markers play a role in the occurrence and development of CRSwNP. METHODS: Following RNA sequencing, a ceRNA network was predicted and constructed based on the sequencing results and multiple databases. Gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and disease ontology (DO) were applied to analyze the potential mechanisms in relation to the pathogenesis of CRSwNP. CIBERSORT was used to evaluate the immune cell infiltration levels in CRSwNP. The candidate genes of differentially expressed (DE) mRNA, DE-lncRNA, DE-miRNA, and DE-circRNA were verified by RT-qPCR, and the back-splice junction of circRNA was verified using Sanger sequencing. The clinical significance of differentially expressed genes was analyzed with correlation test and receiver operating characteristic curve. RESULTS: We identified 716 DE-mRNA, 230 DE-lncRNA, 42 DE-miRNA, and 46 DE-circRNA, and GO and KEGG enrichment analyses indicated that they were involved in multiple biological pathways, predominantly those associated with immunity and inflammation. DO analysis revealed CRSwNP is associated with diseases such as gastroesophageal reflux and allergic reactions. High expression of circ_0021727 was significantly and positively correlated with several important clinical indicators, and the area under the curve was 0.741. CONCLUSIONS: This study provides transcriptomic characteristics, which are potential biomarkers or therapeutic targets for the diagnosis and treatment of CRSwNP.

Risk factors for residual dizziness in patients with benign paroxysmal positional vertigo after successful repositioning: a systematic review and meta-analysis.

PURPOSE: To investigate the risk factors for residual dizziness (RD) in patients with benign paroxysmal positional vertigo (BPPV) after successful repositioning. METHODS: Searches were performed in PubMed, Embase, Cochrane library, Web of Science, Chinese National Knowledge Infrastructure, and Sino Med up to March 7, 2021 and references of relevant articles were screened. Data from eligible studies were meta-analyzed using Stata version 16.0 and Review Manager 5.4. RESULTS: In this systematic review and meta-analysis of 4487 patients from 31 studies, the prevalence of RD was 43.0% (95% CI 39.0-48.0%). Age (MD 4.17; 95% CI 2.13-6.21, P = 0.000), female gender (OR = 1.28, 95% CI 1.11-1.47, P = 0.001), secondary BPPV (OR 1.88; 95% CI 1.27-2.77, P = 0.001), a longer duration of BPPV before treatment (MD 3.45; 95% CI 1.87-5.02, P = 0.000), abnormal ocular vestibular evoked myogenic potential (OVEMP, OR 4.34; 95% CI 2.78-6.78, P = 0.000), abnormal cervical vestibular evoked myogenic potential (CVEMP, OR 2.48; 95% CI 1.54-3.99, P = 0.000), higher Dizziness Handicap Index (DHI) score before treatment (MD 10.88; 95% CI 5.96-15.80, P = 0.000), anxiety (OR 9.58; 95% CI 6.32-14.52, P = 0.000), osteopenia (OR = 4.40, 95% CI 2.17-8.96, P = 0.000), onset in winter (OR 7.27; 95% CI 2.38-22.24, P = 0.001) and with a history of BPPV (OR 1.79; 95% CI 1.06-3.04, P = 0.03) are the risk factors for RD in patients with BPPV after successful repositioning. The affected side, location or type of semicircular involvement, hyperlipidemia, diabetes, hypertension, heart disease, migraine, sleep disorders, canalolithiasis/cupulolithiasis, the number of times the canalith repositioning procedures (CRPs) were performed and number of vertigo attacks did not correlate with the occurrence of RD. CONCLUSIONS: Despite successful treatment, nearly half of the BPPV patients developed RD. RD seems to be a syndrome caused by multiple factors. The pathogenesis of most factors can be explained by psychological and/or physical disorders. Early recognition of these risk factors contributes to the prevention and treatment of RD.

Clinical features in maxillary sinus fungus ball in patients with malignant hematological disease.

PURPOSE: Previous studies on fungus balls have primarily focused on immunocompetent patients, and only a few studies have described the clinical characteristics of fungus balls in malignant hematological disease (MHD) patients. Therefore, we compared the clinical features of maxillary sinus fungus ball (MSFB) between immunosuppressive patients with MHD and immunocompetent patients. METHODS: Twenty patients with MHD and 40 randomly selected immunocompetent patients were enrolled and divided into MHD and non-MHD groups. All patients were diagnosed with MSFB and their clinical features were retrospectively analyzed. RESULTS: Patients in the MHD group had non-specific clinical symptoms and endoscopic manifestations of MSFB, similar to those in the non-MHD group. On computed tomography (CT), the MHD group showed higher Lund-Mackay scores, lesser single sinus opacifications, more multiple sinus opacifications on the affected side, and more bilateral opacifications compared to the non-MHD group. The MHD group had a lower frequency of central hyper-density and heterogeneous opacifications than the non-MHD group. There were no significant differences between the two groups in terms of the fungal-infected side, lateral sinus wall ratio, sclerosis of the lateral sinus wall, erosion of the inner sinus wall, and nasal septum deviation. CONCLUSION: The clinical symptoms and endoscopic manifestations of MSFB in patients with MHD were similar to those of immunocompetent patients. However, more atypical signs and wider mucosal inflammation were found on CT scans of MSFB patients with MHD. These results indicate that caution should be executed when excluding the possibility of fungus balls in immunosuppressive patients.

Long-Term Prognosis of Tinnitus Associated with Idiopathic Sudden Sensorineural Hearing Loss.

OBJECTIVE: To analyze the factors affecting the long-term prognosis of tinnitus accompanied by unilateral idiopathic sudden sensorineural hearing loss (SSNHL). METHODS: A total of 161 patients with sudden hearing loss (HL) accompanied by tinnitus were enrolled. All patients had two separate telephone follow-ups and were asked about changes in tinnitus. The severity of tinnitus at admission and the outcome at discharge were assessed in terms of the patients' sex, age, level of HL, type of audiogram, etc. Results: The prognosis of tinnitus after SSNHL had no relationship with grades of HL or hearing recovery. Initial tinnitus level was remarkably associated with tinnitus improvement at discharge and was an independent risk factor for the long-term prognosis of residual tinnitus after SSNHL (odds ratio 0.722, 95% confidence interval 0.550-0.949, p = 0.019), and the median recovery time was 23.00 ± 3.80 months. CONCLUSIONS: Residual tinnitus after SSNHL has a tendency of self-recovery. The short-term prognosis of tinnitus may be related to psychological changes caused by hearing recovery, while the long-term prognosis of residual tinnitus after SSNHL is related only to the initial tinnitus level, with a median recovery time of approximately 2 years.

Profiles of immune-related genes and immune cell infiltration in the tumor microenvironment of diffuse lower-grade gliomas.

The tumor microenvironment is highly correlated with tumor occurrence, progress, and prognosis. We aimed to investigate the immune-related gene (IRG) expression and immune infiltration pattern in the tumor microenvironment of lower-grade glioma (LGG). We employed the Estimation of STromal and Immune cells in MAlignant Tumor tissues using Expression data (ESTIMATE) algorithm to calculate immune and stromal scores and identify prognostic IRG based on The Cancer Genome Atlas data set. The potential molecular functions of these genes were explored with the help of functional enrichment analysis and the protein-protein interaction network. Remarkably, three cohorts that were downloaded from the Chinese Glioma Genome Atlas database were analyzed to further verify the prognostic values of these genes. Moreover, the Tumor IMmune Estimation Resource (TIMER) algorithm was used to estimate the abundance of infiltrating immune cells and explore the immune infiltration pattern in LGG. And unsupervised cluster analysis determined three clusters of the immune infiltration pattern and indicated that CD8+ T cells and macrophages were significantly associated with LGG outcomes. Altogether, our study identified a list of prognostic IRGs and provided a perspective to explore the immune infiltration pattern in LGG.

Audiological Findings in Patients with Vestibular Migraine and Migraine: History of Migraine May Be a Cause of Low-Tone Sudden Sensorineural Hearing Loss.

INTRODUCTION: The aim of this study was to investigate and compare the auditory findings in migraine, vestibular migraine (VM), and healthy controls. METHODS: Twenty-eight migraine patients (56 ears), 18 VM (36 ears), and 25 healthy controls (50 ears) were included. Audiometry, speech discrimination scores, distortion product optoacoustic emission (DPOAE), and auditory brainstem response were tested. RESULTS: The pure tone in the VM group showed higher thresholds at lower frequencies (250, 500, 1,000, 2,000 Hz) than the control group, with statistical differences observed (P250 Hz = 0.001, P500 Hz = 0.003, P1,000 Hz = 0.016, P2,000 Hz = 0.002). Compared with the healthy controls, the patients with VM had significantly lower amplitudes of DPOAE at 1 kHz (p < 0.001) and 2 kHz (p = 0.020), and the patients with migraine had lower amplitudes at 2 kHz (p = 0.042). Compared with the control group, the patients with migraine reported prolonged latency of wave V (p = 0.016) and IPL I-V (p = 0.003). The patients with VM had significant prolongation of IPL I-V (p = 0.024). CONCLUSION: Not only the peripheral, but also the central auditory system was involved in patients with migraine and VM. In particular, lower frequencies of the auditory system were more likely to be involved in VM. The history of migraine may be a cause of low-tone sudden sensorineural hearing loss.

[Postoperative anxiety and its relationship with life quality in patients with Ménière's diseases].

OBJECTIVE: To investigate the postoperative anxiety and its relationship with life quality in patients with Ménière's diseases.
 Methods: A total of 68 patients with Ménière's disease, who received the treatment of endolymphatic sac decompression from 2010 to 2016, were enrolled. They finished two scales (the self-rating anxiety scale and the quality of life questionnaire for endolymphatic sac decompression of Ménière's disease) by snail mail. The patients were divided into different groups based on their preoperative course, postoperative follow-up time, clinic stage and quality of life after endolymphatic sac decompression surgery, and their anxiety was analyzed. In addition, 109 gender and age-matched patients with other diseases of otorhinolaryngology served as the control group, and their anxiety was also analyzed.
 Results: There was no statistical difference in the postoperative anxiety among the patients with preoperative course for less than 1 year, 1 to 5 years or more than 5 years (all P>0.05). There was no statistical difference in the patients with different duration of follow-up (P>0.05). There was no statistical difference in the patients with the different clinic stages (all P>0.05). There was no statistical difference in the patients with the improved life or non-improved life after surgery (P>0.05). The degree of the anxiety in the Ménière's group was more severe than that in the control group (P<0.01).
 Conclusion: It needs to keep in mind that a certain degree of postoperative anxiety still keeps in patients with Ménière's disease.

[The influence of miR-16 on proliferation and angiogenesis of U87MG in vivo].

OBJECTIVE: To explore the proliferation inhibition of miR-16 to U87MG in vivo. METHODS: The miR-16 over-expression U87MG cells were obtained by infecting U87MG with lentivirus-hsa-GFP-miR-16. The models of subcutaneous transplantation and orthotopic brain glioma were obtained by injecting cells into flank and brains of nude mouse separately. Untransfected U87MG, negative control U87MG and miR-16 over-expression U87MG were separatively cultured and injected into brains of balb/c-nu mice for establishing an orthotopic model of brain glioma. Tumor growth curve was calculated for subcutaneous tumor. The brains were sectioned and stained with hematoxylin & eosin (H&E) and immunohistochemistry for CD31 and cyclinD1. RESULTS: The miR-16 over-expression U87MG cells formed no apparent tumors while the negative control U87MG grew into large tumors. HE stain of brains showed that gliomas of miR-16 over-expression U87MG (0.11 ± 0.04 mm³) were smaller than those of negative control U87MG (6.50 ± 1.41 mm³) and untransfected (6.41 ± 0.91 mm³) in murine brains. Immunohistochemistry showed that cyclinD1 staining was less in gliomas of miR-16 over-expression U87MG than the other two groups. CD31 immunohistochemistry also yielded the similar results. The mean microvascular density (MVD) of gliomas of miR-16 over-expression U87MG (4.50 ± 1.58/× 200) was smaller than negative control (30.40 ± 6.57/× 200) and untransfected (29.40 ± 4.93/× 200) (P < 0.05). CONCLUSION: miR-16 can significantly inhibit the in vivo growth of U87MG glioma. This is probably the results of cell proliferation inhibition and angiogenesis suppression.

The Breakdown of Blood-Labyrinth Barrier Makes it Easier for Drugs to Enter the Inner Ear.

PURPOSE: This study aimed to investigate dynamic change of permeability of blood-labyrinth barrier (BLB) after noise exposure and its effect on the drug delivery efficiency of systemic administration. METHODS: Gadopentetate dimeglumine (Gd-DTPA) and dexamethasone (DEX) were used as tracers, and magnetic resonance imaging (MRI) and immunofluorescence were used to observe the change of the BLB after strong noise exposure in guinea pigs. High-performance liquid chromatography-mass spectrometry (LC-MS) was used to observe the effect of the breakdown of BLB after noise exposure on the drug delivery efficiency of intravenous DEX. The guinea pigs were divided into 6 groups: normal group (N), 1, 3, 5, 8, and 12 days after noise exposure groups (P1, P3, P5, P8, P12), with 5 animals in each group. RESULTS: The BLB changes dynamically after noise exposure. Increased permeability of the blood-endolymph barrier, the endolymph-perilymph barrier, and the blood-nerve barrier was observed at days 1-3, 1-5, and 1-8, respectively, after noise exposure in guinea pigs. Higher drug concentration in the cochlear tissue was obtained by intravenous administration of DEX in guinea pigs during the time window of increased permeability of the BLB. CONCLUSION: After noise exposure, the increased BLB permeability makes it easier for drugs to enter the inner ear from blood. In guinea pigs, 1-8 days after strong noise exposure, the drug delivery efficiency of systemic administration increased. After 8 days, the efficiency gradually returned to normal level. 1-8 days after noise exposure may be the best intervention time for systemic administration. LEVEL OF EVIDENCE: NA Laryngoscope, 134:2377-2386, 2024.

Compensation in neuro-system related to age-related hearing loss.

BACKGROUND: Age-related hearing loss (ARHL) is a major cause of chronic disability among the elderly. Individuals with ARHL not only have trouble hearing sounds, but also with speech perception. As the perception of auditory information is reliant on integration between widespread brain networks to interpret auditory stimuli, both auditory and extra-auditory systems which mainly include visual, motor and attention systems, play an important role in compensating for ARHL. OBJECTIVES: To better understand the compensatory mechanism of ARHL and inspire better interventions that may alleviate ARHL. METHODS: We mainly focus on the existing information on ARHL-related central compensation. The compensatory effects of hearing aids (HAs) and cochlear implants (CIs) on ARHL were also discussed. RESULTS: Studies have shown that ARHL can induce cochlear hair cell damage or loss and cochlear synaptopathy, which could induce central compensation including compensation of auditory and extra-auditory neural networks. The use of HAs and CIs can improve bottom-up processing by enabling 'better' input to the auditory pathways and then to the cortex by enhancing the diminished auditory signal. CONCLUSIONS: The central compensation of ARHL and its possible correlation with HAs and CIs are current hotspots in the field and should be given focus in future research.

NFAT3-FasL axis synchronously regulates apoptosis and necroptosis in murine cochlear outer hair cells after noise trauma.

Existing studies have indicated that noise induces apoptosis and necroptosis in cochlear outer hair cells (OHCs). However, the role of the extrinsic cell death pathway, initiated by death ligands in the cochlea, remains unknown. In this study, we hypothesized that noise could induce the NFAT3/FasL axis-mediated extrinsic death pathway in the cochlea. We found that NFAT3/FasL signaling was silent in normal OHCs. Noise exposure induced apoptosis and necroptosis in OHCs with specifically high FasL expression. Multiplex immunofluorescence staining revealed that NFAT3 nuclear translocation and FasL upregulation were colocalized in the apoptotic and necroptotic OHCs following noise trauma. Administration of FK506 or 11R-vivit (an specific NFAT inhibitor) blocked NFAT3 nuclear translocation, inhibited FasL expression, mitigated apoptosis and necroptosis, and protected against noise-induced hearing loss (NIHL). Finally, FasL knockdown by delivering siRNA intratympanically attenuated apoptosis and necroptosis in OHCs and alleviated NIHL, confirming the role of FasL in OHC death. Collectively, our study demonstrates that the NFAT3/FasL axis mediates noise-induced extrinsic death pathway in OHCs, leading to their apoptosis and necroptosis.

Uptake of gadolinium and dexamethasone in rat inner ear and facial nerve using different administrations.

BACKGROUND: The pathway by which drugs are injected subcutaneously behind the ear to act on the inner ear has not been fully elucidated. OBJECTIVES: To compare the uptake of gadopentetate dimeglumine (Gd-DTPA) and dexamethasone (Dex) in the cochlea and facial nerve of rats following different administrations. MATERIALS AND METHODS: Magnetic resonance imaging was applied to observe the distribution of Gd-DTPA in the facial nerve and inner ear. We observed the uptake of Dex after it was injected with different methods. RESULTS: Images of the intravenous (IV) and intramuscular (IM) groups showed that the bilateral cochlea of the rat was visualized almost simultaneously. While in the left post-auricular (PA) injection group, it was asynchronous. The maximum accumulation (Cmax) of the Gd in the left facial nerve of the PA group (35.406 ± 5.32) was substantially higher than that of the IV group (16.765 ± 3.7542) (p < .01). CONCLUSIONS: Compared with systemic administration, PA has the advantages of long Gd and Dex action time and high accumulation concentration to treat facial nerve diseases. SIGNIFICANCE: The distribution of Gd and Dex in the inner ear and facial nerve of rats following PA injection might be unique.

Tenovin-6 exhibits inhibitory effects on the growth of Sonic Hedgehog (SHH) medulloblastoma, as evidenced by both in vitro and in vivo studies.

Medulloblastoma (MB) is the most common malignant brain tumor in children. Within MB, tumors driven by the Sonic Hedgehog (SHH) pathway represent the most heterogeneous subtype, known as SHH subtype medulloblastoma (SHH-MB). Tenovin-6, a recognized p53 activator, has been demonstrated to inhibit autophagy and modulate sirtuin activity, underscoring its potential as a novel therapeutic agent across various malignancies. However, its efficacy in treating SHH-MB remains unexplored. This study aims to investigate the inhibitory effects of tenovin-6 on SHH-MB and elucidate its underlying signaling pathways. We assessed the impact of tenovin-6 on cell proliferation through the CCK-8 and colony formation assays. The scratch and transwell invasion assays were utilized to evaluate the drug's effects on metastasis. Apoptosis and reactive oxygen species (ROS) levels were measured using flow cytometry. Potential signaling pathways were identified via transcriptomics and quantitative PCR (qPCR). Our in vivo studies involved a mouse xenograft model to explore tenovin-6's anticancer efficacy against SHH-MB. The findings indicate that tenovin-6 not only inhibits cell proliferation and metastasis in SHH-MB cell lines but also promotes apoptosis, which is closely linked to its proliferation-inhibiting properties. Additionally, animal experiments confirmed that tenovin-6 suppresses MB growth in vivo. We discovered that tenovin-6 reduces intracellular ROS levels and inhibits autophagy in SHH-MB by disrupting the fusion of autophagosomes with lysosomes, likely through inducing autophagosome formation.

The auditory function in migraine model rats induced by postauricular nitroglycerin injection.

Objective: The mechanism by which migraines produce inner ear-related symptoms is not well understood. Previous studies have found that the latency of auditory brainstem response (ABR) in animal models of migraine has changed, but the threshold has not changed significantly. Therefore, it is necessary to establish a better animal model with both migraine and hearing loss to explore the relationship between migraine and auditory function deeply. Methods: In this study, the rat model of migraine was induced by postauricular injection of nitroglycerin (NTG), and the effect on the auditory function of the inner ear was explored by comparing with intraperitoneal injection of nitroglycerin. The rats were given the drug repeatedly on alternate days, a total of 5 dosing, with the body weight monitored during the drug administration. The tactile threshold of the rats' forepaw was measured using von-Frey filaments and auditory function was assessed by ABR. Results: The results showed that the baseline tactile threshold of rats gradually decreased during the modeling process, and hyperalgesia appeared. Postauricular injection of NTG did not affect the weight gain of rats, while intraperitoneal injection of NTG showed slow or even negative weight gain. The ABR threshold of Click, 4 and 8 kHz of postauricular NTG injection rats increased, the latency was prolonged, and the ABR threshold in the right ear was higher than that in the left ear. Conclusions: We demonstrated that postauricular injection of nitroglycerin may be safer and more effective than intraperitoneal injection of nitroglycerin in the process of creating rat migraine model without affecting the weight gain. Postauricular injection of nitroglycerin has more damage to the auditory function of rats. Therefore, the migraine model rat induced by postauricular injection of nitroglycerin may be a new model of cochlear migraine.

Case report: MRI changes of the inner ear in an MD patient with suspected immune dysfunction.

Objectives: The primary objective of this study was to present the progressive changes from labyrinthitis to endolymphatic hydrops (EH) demonstrated in the inner ear MRI of a patient with MD and suspected immune dysfunction. Patient: This 31-year-old male was diagnosed with MD and suspected autoimmune diseases. Interventions: Immunosuppressants and biological agents. Main outcomes measures: Inner ear MRI images. Results: Changes in the patient's progress revealed that inner ear immune and inflammatory changes might induce EH, which may eventually turn into MD. Conclusion: This case is the first documented case of MRI revealing progressive changes from inflammatory response to endolymphatic hydrops in the inner ear. It shows the correlation between MD and inflammation visually. It is of great significance to reveal the pathogenesis of MD to further assist in the guidance of treatment decision making.

Individual treatment strategy of thyroglossal duct cyst carcinoma: a case report.

Background: Neoplasia of ectopic thyroid components is relatively rare in thyroglossal duct cysts. We report a case of histopathologically confirmed papillary thyroid carcinoma in a thyroglossal duct cyst, discuss its clinical characteristics of, and provide reference for diagnosis and treatment. Case Description: We presented a 25-year-old female went to hospital because of "a tumor in her neck". She was preoperatively diagnosed with thyroglossal duct cyst by cervical ultrasound, and enhanced computed tomography (CT). However, the solid component of the mass suggested intracystic neoplasia. She underwent Sistrunk surgical resection, and postoperative histopathology showed thyroglossal duct cyst, and papillary thyroid carcinoma in the cyst wall. The patient had no high-risk factors and had a low risk of recurrence. After full disclosure, the patient chose close follow-up, and to date there has been no recurrence. Conclusions: There are controversies regarding the origin of thyroglossal duct cyst carcinoma and the extent of surgery required, and a lack of unified treatment guidelines. We recommend tailoring individualized treatment based on individual risk stratification. By reporting this case, we hope to inform surgeons of the various abnormalities that may occur in ectopic thyroid tissue.

[Discussion on diagnosis and treatment of dizziness from cases].

Dizziness or vertigo is a common clinical symptom, and its underlying etiology is complex. Many clinicians are confused about its diagnosis and treatment. This article presents a case about chronic vestibular syndrome. And case appreciation and academic discussion are conducted by well-known domestic neurologists and otologists, so as to provide a good thinking model and basic ideas for the diagnosis and treatment of dizziness or vertigo, hoping to further improve the diagnosis and treatment level among clinicians.

The plasma fibrinogen levels in the nitroglycerin-induced chronic migraine rat model and its association between migraine-associated vestibular dysfunction.

The purpose of this study was to measure the vestibular function and plasma fibrinogen level in the nitroglycerin (NTG)-induced chronic migraine rats, and explore the effect of defibrinogenation on migraine and associated vestibular dysfunction. The chronic migraine rat model was built by recurrent NTG injection. Batroxobin was administrated as a defibrinogenating drug. We measured the mechanical withdrawal threshold, vestibular function, and fibrinogen level of the rats 30 min before and 2 h following the model establishment, as well as 1 h after batroxobin administration. The results showed that vestibular function was impaired in NTG-induced chronic migraine rats. The fibrinogen levels were increased following repeated NTG injections. However, defibrinogenation did not affect either aggravating or alleviating mechanical hyperalgesia or vestibular dysfunction in the migraine model rats. These findings suggest that the NTG-induced chronic migraine rat model can be used for research on migraine-associated vestibular symptoms. Albeit the association between elevated fibrinogen levels and migraine attacks can be observed, the role of excessive fibrinogen in the pathogenesis of chronic migraine is yet to be determined.

A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss.

OBJECTIVES: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. METHODS: The basic clinical data of OI proband and her parents were collected, and the COL1A1 and COL1A2 genes were detected in peripheral blood by PCR amplification and generation Sanger sequencing. Literature of stapedial surgery in patients with osteogenesis imperfecta was collected. RESULTS: The heterozygous mutation of the 26 exon c.1922_1923 ins C in the OI progenitor COL1A1 gene led to the amino acid frameshift mutation of p.Pro 601FS, which was not detected in the phenotypic parents. The homozygous of exon 28 c.1782>G in COL1A2 was detected in the proband and her parents, resulting in changes in the protein p.Pro 549Ala. CONCLUSION: The clinical symptoms of the OI proband is caused by heterozygous mutation of the 26 exon c.1922_1923 ins C in COL1A1 gene. Stapedial surgery can provide short-term and long-term hearing benefits for OI patients with hearing loss. LEVEL OF EVIDENCE: Level 4.