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Background: Hereditary hearing loss is a genetically heterogeneous neurosensory disorder that affects many people. Deafness and infertility can coexist in some cases, creating the hearing impairment infertile male syndrome. There are several known molecular mechanisms that can cause deafness either on its own or in conjunction with infertility.
Methods And Results: Here, we represent two consanguineous families (A, B), both families had clinical evidence of deafness, and family B also had infertility, so we referred to them as having nonsyndromic hearing loss (NSHL) and hearing impairment infertile male syndrome (HIIMS), respectively. These families' genetic makeup was examined using an Affymetrix GeneChip 250K Nsp array followed by Sanger sequencing. In family A, we identified a novel homozygous stop gain variant [NM_003672.4; c.1000C>T; p.(Gln334*)] and a homozygous missense variant [NM_003672.4; c.684C>A; p.(Asn228Lys)] in family B in gene (MIM#603504). In animal models, the gene causes both hearing loss and infertility; in addition, it also causes NSHL and HIIMS in humans.
Conclusions: Our study on the gene has identified two novel variants, crucial for delineating disease boundaries. Variants in exon 10 and upstream cause HIIMS, and those in exon 11 and downstream are linked exclusively to hearing impairment. This precision enhances diagnostics and offers potential for targeted interventions, marking a significant advancement in understanding the genetic basis of these conditions.
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http://dx.doi.org/10.1159/000536016 | DOI Listing |
Lancet Reg Health West Pac
December 2024
School of Biomedical Convergence Engineering, College of Information and Biomedical Engineering, Pusan National University, Yangsan, South Korea.
Background: Little is known about the impact of PM on people with disabilities. We aimed to explore the association between PM and hospitalization via the emergency department (ED admission) among people with disabilities, together with the attributable ED admission cases and costs.
Methods: We applied a time-stratified case-crossover design adjusting ozone, holiday, and temperature using seven years (2015-2021) of claim-based data on ED admissions from the Korean National Health Insurance Database.
World J Clin Oncol
December 2024
Department of Pathology, Peking University People's Hospital, Beijing 100044, China.
Background: Primary squamous cell carcinoma (SCC) of the middle ear is rare, with non-keratinizing basaloid types being exceptionally uncommon. Distinguishing these cancers, often caused by viral factors (, human papillomavirus or Epstein-Barr virus), or specific genetic alterations (, bromodomain-containing protein 4-nuclear protein in or gene fused with FLI chromosomal rearrangement), from other cranial conditions, is difficult. The recently identified DEK::AFF2 non-keratinizing SCC (NKSCC) is a novel subtype, fitting the World Health Organization classification of head and neck neoplasms.
View Article and Find Full Text PDFPediatr Investig
December 2024
Department of Otorhinolaryngology Union Hospital, Tongji Medical College Huazhong University of Science and Technology Wuhan Hubei China.
J Otol
April 2024
Department of Otorhinolaryngology and Head & Neck Surgery, Süleyman Demirel University Faculty of Medicine, Isparta, Turkiye.
Objective: The aim of this study was to examine angiotensin converting enzyme (ACE) insertion/deletion, alpha adducin, and interleukin-10 (IL-10) gene polymorphisms (GPs) in terms of both idiopathic sudden sensorineural hearing loss (ISSNHL) risk and their potential prognostic effects.
Methods: The study group consisted of 70 patients and the control group consisted of 50 patients. Venous blood samples were analyzed for relevant GPs via kompetitive allele-specific polymerase chain reaction.
J Otol
April 2024
Department of Traslational Medicine and Neuroscience, Università Degli Studi di Bari, Policlinico, Piazza G. Cesare, 11, Bari, 70124, Italy.
Otosclerosis is a well-known disease which mainly affects middle-aged female patients, causing conductive or mixed hearing loss. Diagnosis is essentially made through a complete audiometric battery testing, while treatment substantially relies on stapes surgery. In this study, we analyzed audiometric and Quality-of-Life data from 33 patients in order to refine the surgical indications (unilateral versus bilateral stapes surgery) and assess the best technique (stapedotomy versus partial stapedectomy) and timing of treatment.
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