Article
Multidisciplinary Sciences
Guney Bademci, Maria Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin
Summary: The discovery and understanding of deafness genes, like MINAR2, have greatly contributed to our knowledge of hearing and its disorders. This study found DNA variants in MINAR2 in families with autosomal recessive nonsyndromic deafness, highlighting the importance of this gene in hearing.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Miles J. Klimara, Carla Nishimura, Donghong Wang, Diana L. Kolbe, Amanda M. Schaefer, William D. Walls, Kathy L. Frees, Richard J. H. Smith, Hela Azaiez
Summary: The study aimed to evaluate the occurrence rate of de novo variants (DNVs) in hearing loss-associated genes and assess their contribution to hearing loss. Through segregation analysis of a series of trio families, DNVs were found to be a relatively common cause of hearing loss, with marked variability based on inheritance mode and phenotype.
GENETICS IN MEDICINE
(2022)
Article
Behavioral Sciences
K. Moin-Darbari, L. Lafontaine, M. Maheu, B. A. Bacon, F. Champoux
Summary: The brain of deaf individuals is not just affected by deafness, but also by comorbid vestibular impairments, challenging our understanding of the impact of hearing loss on brain development.
Article
Multidisciplinary Sciences
Takeshi Kawakami, Vandana Raghavan, Alison L. Ruhe, Meghan K. Jensen, Ausra Milano, Thomas C. Nelson, Adam R. Boyko
Summary: This study identified a genomic region and a specific genetic mutation associated with early onset adult deafness (EOAD) in Rhodesian Ridgebacks, providing valuable insights for understanding hearing disorders in both dogs and humans.
Article
Audiology & Speech-Language Pathology
Katelyn N. Robillard, Erik de Vrieze, Erwin van Wijk, Jennifer J. Lentz
Summary: Hearing loss, affecting over 430 million people worldwide, has significant impacts on physical, cognitive, and overall well-being. Antisense oligonucleotide (ASO)-based therapies show promise in treating hereditary hearing loss disorders by manipulating gene expression and targeting specific genetic factors.
Article
Audiology & Speech-Language Pathology
Yi-Feng Lin, Hung-Ching Lin, Chia-Ling Tsai, Yi-Chao Hsu
Summary: This study investigated the spectrum of GJB2 mutations in Taiwan and explored the genotype-phenotype correlations in patients with NSHL. The data revealed that GJB2 c.109G > A heterozygotes had poorer hearing compared to homozygotes, highlighting the complexity of GJB2 genetics. Further investigation is needed to understand the mechanism underlying the more severe phenotype in heterozygotes and whether it is caused by GJB2 heterozygotes or compound heterozygotes.
Article
Audiology & Speech-Language Pathology
Madison M. Weinberg, Nazrawit A. Retta, Katrina M. Schrode, Laurel A. Screven, Jamie L. Peterson, Cynthia F. Moss, Susanne Sterbing, Amanda M. Lauer
Summary: Researchers found profound deafness and extensive cochlear damage in some big brown bats, which exhibited anomalies in behavioral sonar tracking experiments or lacked neural responses to acoustic stimulation. This study also revealed abnormal or absent auditory brainstem responses in these bats, with histological analyses showing extensive loss of sensory cells in the cochlea.
Article
Medicine, Research & Experimental
Joshua W. Wood, Amber D. Shaffer, Dennis Kitsko, David H. Chi
Summary: The study found that despite treatment, half of the patients did not experience improvement in hearing. Prognostic factors associated with hearing improvement were generally consistent with those established in the adult population. Further research with consistent definitions for hearing improvement is needed to improve the understanding and treatment of pediatric SSNHL.
Review
Genetics & Heredity
Frederic R. E. Acke, Els M. R. De Leenheer
Summary: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial, and auditory manifestations. There is a wide phenotypical variability due to genetic heterogeneity. The most common type (COL2A1) presents with mild hearing loss, while COL11A1 and COL11A2 related types result in more frequent and moderate hearing loss. Middle ear problems and conductive hearing loss are also prevalent in Stickler syndrome patients.
Article
Genetics & Heredity
Nika Petrova, Andrey Marakhonov, Natalia Balinova, Anna Abrukova, Fedor A. Konovalov, Sergey Kutsev, Rena A. Zinchenko
Summary: This study focused on investigating the molecular and genetic causes of hereditary sensorineural hearing loss in the Chuvash ethnic group of Russia, identifying the homozygous variant NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) as a major molecular cause in 23% of Chuvash patients. The frequency of this variant was 25% in patients and 1.1% in healthy Chuvash population, with no evidence of common presence in neighboring populations in the Volga-Ural region.
Article
Medicine, General & Internal
Yen-Fu Cheng, Sudha Xirasagar, Chin-Shyan Chen, Dau-Ming Niu, Herng-Ching Lin
Summary: This study examines the associations between Fabry disease and hearing-related manifestations using a nationwide population-based dataset. It found that Fabry disease is significantly associated with certain auditory manifestations, including hearing loss, sudden deafness, and tinnitus.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, Research & Experimental
Andrea Simi, Julia Perry, Emma Schindler, Andrea Oza, Minjie Luo, Tiffiney Hartman, Ian D. Krantz, John A. Germiller, Kosuke Kawai, Margaret Kenna
Summary: This study investigated phenotypic presentation and incidence of audiologic progression in pediatric patients with STRC-related hearing loss. Patients had bilateral, symmetric SNHL ranging from mild to moderate-severe at baseline, with approximately 58% showing some degree of progressive HL. The variability of STRC phenotype and possible audiologic progression should be considered in clinical management of pediatric STRC-related SNHL.
Review
Biochemistry & Molecular Biology
Rita Malesci, Martina Lombardi, Vera Abenante, Federica Fratestefano, Valeria Del Vecchio, Anna Rita Fetoni, Jacopo Troisi
Summary: Hearing loss is the most common sensory pathology worldwide, and metabolomics may offer a promising approach to understanding its complex pathogenic mechanisms. However, there are currently issues with the lack of method standardization, significant heterogeneity in study designs, and small sample sizes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Otorhinolaryngology
Kimberly Luu, Amber D. Shaffer, David H. Chi
Summary: A survey was conducted to assess the practice patterns of pediatric otolaryngologists in managing children with SSNHL. Results showed that most physicians treat SSNHL with systemic steroids, but there are significant variations in other diagnostic and treatment methods.
AMERICAN JOURNAL OF OTOLARYNGOLOGY
(2023)
Article
Multidisciplinary Sciences
Ana E. Amariutei, Jing-Yi Jeng, Saaid Safieddine, Walter Marcotti
Summary: Hearing loss is a common and chronic health condition worldwide, expected to affect 10% of the global population by 2050. Hereditary hearing loss accounts for most cases of congenital and adult-onset hearing loss. Gene therapy has shown promising results in pre-clinical studies involving mice, but challenges such as safety testing, identifying optimal treatment time windows, and improving treatment efficiency need to be addressed before its implementation in human clinical trials.
ROYAL SOCIETY OPEN SCIENCE
(2023)