Variant prioritization of exome sequencing (ES) data for molecular diagnosis of sensorineural hearing loss (SNHL) with extreme etiologic heterogeneity poses a significant challenge. This study used an automated variant prioritization system ("EVIDENCE") to analyze SNHL patient data and assess its diagnostic accuracy. We performed ES of 263 probands manifesting mild to moderate or higher degrees of SNHL. Candidate variants were classified according to the 2015 American College of Medical Genetics guidelines, and we compared the accuracy, call rates, and efficiency of variant prioritizations performed manually by humans or using EVIDENCE. In our in silico panel, 21 synthetic cases were successfully analyzed by EVIDENCE. In our cohort, the ES diagnostic yield for SNHL by manual analysis was 50.19% (132/263) and 50.95% (134/263) by EVIDENCE. EVIDENCE processed ES data 24-fold faster than humans, and the concordant call rate between humans and EVIDENCE was 97.72% (257/263). Additionally, EVIDENCE outperformed human accuracy, especially at discovering causative variants of rare syndromic deafness, whereas flexible interpretations that required predefined specific genotype-phenotype correlations were possible only by manual prioritization. The automated variant prioritization system remarkably facilitated the molecular diagnosis of hearing loss with high accuracy and efficiency, fostering the popularization of molecular genetic diagnosis of SNHL.
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http://dx.doi.org/10.1038/s41598-021-99007-3 | DOI Listing |
Iran J Otorhinolaryngol
January 2025
Senior Resident, Department of ENT and Head & Neck Surgery , All India Institute of Medical Sciences, Bathinda, Punjab, India.
Introduction: Electric shock occurs when electricity passes through the body, causing a range of symptoms from mild tingling to potentially life-threatening injuries such as burns, seizures, and cardiac arrest. In rare cases, Sudden Sensorineural Hearing Loss (SSNHL) has also been associated with an electric shock.
Case Report: A 35-year-old male presented with left-sided hearing loss following an electric shock.
Cureus
December 2024
Geriatrics and Long-Term Care, Rumailah Hospital - Hamad Medical Corporation, Doha, QAT.
Background and objective Viral infections caused by cytomegalovirus, lymphocytic choriomeningitis virus, varicella-zoster virus, herpes simplex type 1 and type 2, rubella, measles, rubeola, HIV, West Nile virus, Lassa virus, and mumps are known to be associated with hearing loss. There have been reports of inner ear involvement in coronavirus disease 2019 (COVID-19) patients but the extent and variations in cochlear involvement of symptomatic and asymptomatic patients has not been adequately described. This study aimed to evaluate the hearing status among symptomatic and asymptomatic COVID-19 patients to address the prospects for routine screening for hearing loss in COVID-19 patients.
View Article and Find Full Text PDFSci Prog
January 2025
Department of Vascular Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Objective: To explore the prevalence and risk factors of carotid artery (CA) stenosis among subclavian steal syndrome (SSS) patients and to record their prognoses.
Methods: This observational study was retrospective. From January 2015 to October 2022, 169 patients were diagnosed with SSS.
Hum Mol Genet
January 2025
Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University, No. 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.
View Article and Find Full Text PDFEar Hear
January 2025
Department of Psychological Sciences, Kansas State University, Manhattan, KS, USA.
Objectives: Occupational hearing loss is a significant problem worldwide despite the fact that it can be mitigated by the wearing of hearing protection devices (HPDs). When surveyed, workers frequently report that worsened work performance while wearing HPDs is one reason why they choose not to wear them. However, there have been few studies to supplement these subjective reports with objective measures.
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