879 results match your criteria Inner Ear Genetic Sensorineural Hearing Loss

Genetic research progress in branchiooto syndrome/ branchiootorenal syndrome.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Jan;47(1):129-138

Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha 410008.

Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. These diseases are mainly characterized by hearing impairment and abnormal phenotype of ears, accompanied by renal malformation and branchial cleft anomalies including cyst or fistula, with an incidence of 1/40 000 in human population. Otic anormalies are one of the most obvious clinical manifestations of BOS/BORS, including deformities of external, middle, inner ears and hearing loss with conductive, sensorineural or mix, ranging from mild to profound loss. Read More

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January 2022

Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.

Hum Mol Genet 2022 Apr 25. Epub 2022 Apr 25.

Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.

Sensorineural hearing loss often results from damaged or deficient inner ear hair cells. Mitochondrial 12S rRNA 1555A > G mutation has been associated with hearing loss in many families. The m. Read More

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Transcriptome-Guided Identification of Drugs for Repurposing to Treat Age-Related Hearing Loss.

Biomolecules 2022 03 25;12(4). Epub 2022 Mar 25.

Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.

Age-related hearing loss (ARHL) or presbycusis is a prevalent condition associated with social isolation, cognitive impairment, and dementia. Age-related changes in the cochlea, the auditory portion of the inner ear, are the primary cause of ARHL. Unfortunately, there are currently no pharmaceutical approaches to treat ARHL. Read More

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Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review.

Laryngoscope Investig Otolaryngol 2022 Apr 8;7(2):540-563. Epub 2022 Feb 8.

Cambridge University Hospitals NHS Foundation Trust Addenbrooke's Health Campus Cambridge UK.

Objective: Establish anatomical considerations, audiological outcomes, and optimal management in patients with branchiootic/branchiootorenal syndrome (BO/BOR).

Methods: Databases reviewed: Medline, Pubmed, Embase, Web of Science, Cochrane Collection, and ClinicalTrials.gov. Read More

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Integrative Functional Transcriptomic Analyses Implicate Shared Molecular Circuits in Sensorineural Hearing Loss.

Front Cell Neurosci 2022 14;16:857344. Epub 2022 Mar 14.

State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.

Sensorineural hearing loss (SNHL) is referred to as the most common type of hearing loss and typically occurs when the inner ear or the auditory nerve is damaged. Aging, noise exposure, and ototoxic drugs represent three main causes of SNHL, leading to substantial similarities in pathophysiological characteristics of cochlear degeneration. Although the common molecular mechanisms are widely assumed to underlie these similarities, its validity lacks systematic examination. Read More

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The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.

Hum Genet 2022 Apr 30;141(3-4):709-735. Epub 2022 Mar 30.

Institut Pasteur, Institut de l'Audition, Université Paris Cité, INSERM UMRS1120, Progressive Sensory Disorders, Pathophysiology and Therapy Unit, F-75012, Paris, France.

Usher syndrome (USH) is the most common cause of deaf-blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under investigation. The traditional clinical classification of Usher syndrome defines three major subtypes-USH1, 2 and 3-according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Read More

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A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.

BMC Med Genomics 2022 03 6;15(1):49. Epub 2022 Mar 6.

Department of Otorhinolaryngology Head and Neck Surgery, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, No. 20 East, Yuhuangding Road, Yantai, 264000, Shandong, People's Republic of China.

Background: The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder. Here, we intended to investigate genetic causes of hearing loss in a Han Chinese man.

Method: First, whole-exome sequencing was performed to identify the gene mutations responsible for hearing loss in the proband. Read More

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Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.

Orphanet J Rare Dis 2022 02 21;17(1):65. Epub 2022 Feb 21.

Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, 639 Zhizaoju Road, Shanghai, 200011, China.

Background: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The purpose of this study was to investigate the clinical characteristics and molecular findings in IP-III patients by Sanger or nanopore single-molecule sequencing.

Methods: Diagnosis of IP-III was mainly based on clinical characteristics including radiological and audiological findings. Read More

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February 2022

Perilymph metabolomic and proteomic MALDI-ToF profiling with porous silicon chips: A proof-of-concept study.

Hear Res 2022 04 2;417:108457. Epub 2022 Feb 2.

Department of oto-rhino-laryngology, Grenoble Alpes University Hospital, Avenue Maquis du Grésivaudan, 38700 La Tronche, France; Braintech Lab, INSERM unit 1205, Grenoble Alpes University, 38400 Saint Martin D'heres, France; Grenoble Alpes University, 38000 Grenoble, France.

Introduction: Sensorineural hearing losses (SNHLs) are a significant public health issue, and the hearing loss field is desperately in need of effective therapy. Pathophysiological mechanisms are not yet clearly understood in the absence of validated methods to assess the inner ear content. Proteomic and metabolomic analysis of perilymph is opening new research perspectives for SNHLs. Read More

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Cytokines and Inflammation in Meniere Disease.

Clin Exp Otorhinolaryngol 2022 Feb 8;15(1):49-59. Epub 2022 Feb 8.

Otology and Neurotology Group CTS495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Junta de Andalucía, PTS, Granada, Spain.

Meniere disease (MD) is a rare set of conditions associated with the accumulation of endolymph in the cochlear duct and the vestibular labyrinth with a decrease of endocochlear potential. It is considered a chronic inflammatory disorder of the inner ear with a multifactorial origin. The clinical syndrome includes several groups of patients with a core phenotype: sensorineural hearing loss, episodes of vertigo, and tinnitus with a non-predictable course. Read More

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February 2022

TMT-Based Quantitative Proteomics Reveals Cochlear Protein Profile Alterations in Mice with Noise-Induced Hearing Loss.

Int J Environ Res Public Health 2021 12 30;19(1). Epub 2021 Dec 30.

Key Laboratory of Environmental Medicine Engineering, Ministry of Education, School of Public Health, Southeast University, Nanjing 210009, China.

Noise-induced hearing loss (NIHL) is a global occupational disease affecting health. To date, genetic polymorphism studies on NIHL have been performed extensively. However, the proteomic profiles in the cochleae of mice suffering noise damage remain unclear. Read More

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December 2021

[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2022 Jan;36(1):36-40

National Clinical Research Center for Otolaryngologic Diseases,College of Otolaryngology Head and Neck Surgery,Chinese PLA General Hospital,Department of Otomicrosurgery,Sixth Medical Center of the PLA General Hospital,Beijing,100048,China.

To explore the clinical diagnosis, otological treatment and molecular etiology in a rare syndromic hearing loss case characterized by mandibulofacial dysostosis with microcephaly(MFDM). The proband underwent detailed history collection, systematic physical examination and phenotypic analysis, as well as audiological examination, chest X-ray, temporal bone CT and brain MRI and other imaging examinations. The blood DNA of the proband and his parents was extracted and tested by the whole exom sequencing. Read More

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January 2022

A Case Report of Gene Mutation Alport Syndrome in 2 Native African Children.

Case Rep Nephrol Dial 2021 Sep-Dec;11(3):308-313. Epub 2021 Oct 11.

Department of Child Health, University of Benin/University of Benin Teaching Hospital, Benin City, Nigeria.

Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalities of anterior lenticonus and yellow and white dots and flecks on the macular of the retina. In this report, we describe the cases of 2 siblings: 15- and 13-year-old boys of pure African descent with the gene mutation. Read More

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October 2021

A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.

BMC Med 2021 12 1;19(1):302. Epub 2021 Dec 1.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Background: Sensorineural hearing loss is one of the most common sensory deficiencies. However, the molecular contribution to age-related hearing loss is not fully elucidated.

Methods: We performed genome-wide association studies (GWAS) for hearing loss-related traits in the UK Biobank (N = 362,396) and selected a high confidence set of ten hearing-associated gene products for staining in human cochlear samples: EYA4, LMX1A, PTK2/FAK, UBE3B, MMP2, SYNJ2, GRM5, TRIOBP, LMO-7, and NOX4. Read More

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December 2021

MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea.

Life Sci Alliance 2022 02 23;5(2). Epub 2021 Nov 23.

Molecular and Integrative Biosciences Research Programme, University of Helsinki, Helsinki, Finland

Failure in the structural maintenance of the hair cell stereocilia bundle and ribbon synapse causes hearing loss. Here, we have studied how ER stress elicits hair cell pathology, using mouse models with inactivation of (mesencephalic astrocyte-derived neurotrophic factor), encoding an ER-homeostasis-promoting protein. From hearing onset, deficiency caused disarray of the outer hair cell stereocilia bundle and reduced cochlear sound amplification capability throughout the tonotopic axis. Read More

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February 2022

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

Brain Commun 2021 26;3(4):fcab256. Epub 2021 Oct 26.

Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.

The recent identification of NAA80/NAT6 as the enzyme that acetylates actins generated new insight into the process of post-translational actin modifications; however, the role of NAA80 in human physiology and pathology has not been clarified yet. We report two individuals from a single family harbouring a homozygous c.389T>C, p. Read More

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October 2021

Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.

Int J Pediatr Otorhinolaryngol 2022 Jan 14;152:110975. Epub 2021 Nov 14.

Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.

Objectives: To evaluate the clinical and genetic features of children with hearing loss associated with one of the most common malformations of the inner ear: bilateral enlargement of vestibular aqueducts (EVA).

Methods: Clinical and genetic features were investigated in 28 children with hearing loss diagnosed with bilateral EVA by computed tomography from January 2008 to September 2019.

Results: Fourteen subjects had undergone newborn hearing screening (NHS). Read More

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January 2022

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.

Sci Rep 2021 11 18;11(1):22488. Epub 2021 Nov 18.

DIABGENE Laboratory, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.

The genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying causal genes associated with mid-frequency hearing loss (HL), which contributes to less than about 1% of SNHL cases, by whole exome sequencing (WES). Thirty families segregating mid-frequency SNHL, in whom biallelic GJB2 mutations had been previously excluded, were selected from among 851 families in our DNA repository of SNHL. Read More

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November 2021

Sensory transduction is required for normal development and maturation of cochlear inner hair cell synapses.

Elife 2021 11 4;10. Epub 2021 Nov 4.

Department of Otolaryngology, Boston Children's Hospital and Harvard Medical School, Boston, United States.

Acoustic overexposure and aging can damage auditory synapses in the inner ear by a process known as synaptopathy. These insults may also damage hair bundles and the sensory transduction apparatus in auditory hair cells. However, a connection between sensory transduction and synaptopathy has not been established. Read More

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November 2021

Experimental animal models of drug-induced sensorineural hearing loss: a narrative review.

Ann Transl Med 2021 Sep;9(17):1393

Department of Otolaryngology Head and Neck Surgery, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

Objective: This narrative review describes experimental animal models of sensorineural hearing loss (SNHL) caused by ototoxic agents.

Background: SNHL primarily results from damage to the sensory organ within the inner ear or the vestibulocochlear nerve (cranial nerve VIII). The main etiology of SNHL includes genetic diseases, presbycusis, ototoxic agents, infection, and noise exposure. Read More

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September 2021

Autophagy Regulates the Survival of Hair Cells and Spiral Ganglion Neurons in Cases of Noise, Ototoxic Drug, and Age-Induced Sensorineural Hearing Loss.

Front Cell Neurosci 2021 13;15:760422. Epub 2021 Oct 13.

Department of Otolaryngology Head and Neck Surgery, The Second Affiliated Hospital of Anhui Medical University, Hefei, China.

Inner ear hair cells (HCs) and spiral ganglion neurons (SGNs) are the core components of the auditory system. However, they are vulnerable to genetic defects, noise exposure, ototoxic drugs and aging, and loss or damage of HCs and SGNs results in permanent hearing loss due to their limited capacity for spontaneous regeneration in mammals. Many efforts have been made to combat hearing loss including cochlear implants, HC regeneration, gene therapy, and antioxidant drugs. Read More

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October 2021

Genetics of Inner Ear Malformations: A Review.

Audiol Res 2021 Oct 12;11(4):524-536. Epub 2021 Oct 12.

Neuroradiology Unit, Department of Neurosciences, University of Padua, 35128 Padua, Italy.

Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Read More

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October 2021

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Genes (Basel) 2021 10 1;12(10). Epub 2021 Oct 1.

Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study aims to define the molecular diagnosis for a cohort of 24 suspected-PDS patients characterized by a deep radiological and audiological evaluation. Read More

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October 2021

[Difference of gene mutation frequency between patients with large vestibular aqueduct syndrome and/or Mondini dysplasia].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 Oct;35(10):891-895

Department of Otolaryngology Head and Neck Surgery,Children's Hospital of Nanjing Medical University,Nanjing,210008,China.

The purpose of this study was to evaluate the mutation frequency of gene in patients with enlarged vestibular aqueduct syndrome(EVAS) and/or Mondini dysplasia(MD), so as to provide evidence for molecular diagnosis of deafness. In total, 74 patients with sensorineural hearing loss were included in this study. All patients underwent thin-layer CT examination of temporal bone. Read More

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October 2021

Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss.

Gene 2022 Jan 6;808:146000. Epub 2021 Oct 6.

Department of Otolaryngology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China. Electronic address:

Hearing loss is a common disease, of which genetic factors are the main cause. The incidence of mild or moderate postlingual deafness in children is not high, and the impact on life and learning is not as severe as that of prelingual deafness. This leads to insufficient attention to the disorder in the clinic. Read More

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January 2022

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Am J Hum Genet 2021 10;108(10):2006-2016

Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy. Read More

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October 2021

Pharmacogenetic screening of A1555G and C1494T mitochondrial mutations and the use of ototoxic drugs among Jordanians.

Eur Rev Med Pharmacol Sci 2021 Sep;25(18):5684-5689

Department of Clinical Pharmacy and Pharmacy Practice, Faculty of Pharmacy, Yarmouk University, Irbid, Jordan.

Objective: Hearing loss may impact an individual's psychosocial behaviors and lead to cognitive decline. The goals of this study were to describe the frequency of nonsyndromic hearing loss (NSHL) among Jordanian patients with regular exposure to ototoxic drugs, perform screening for A1555G and C1494T mitochondrial mutations (12S rRNA gene) and identify predictors of hearing loss.

Materials And Methods: A cross-sectional study was conducted in which medical records were reviewed to record the pattern of ototoxic drug use among participants. Read More

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September 2021

Novel gene discovery for hearing loss and other routes to increased diagnostic rates.

Hannie Kremer

Hum Genet 2022 Apr 1;141(3-4):383-386. Epub 2021 Oct 1.

Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.

Despite decades of research, there is much to be learned about the genetic landscape of sensorineural hearing loss. Novel genes for hearing loss remain to be identified while 'secrets' of the known genes need to be uncovered. These 'secrets' include regulatory mechanisms of gene activity and novel aspects of gene structure. Read More

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Age-related degradation of tectorial membrane dynamics with loss of CEACAM16.

Biophys J 2021 11 21;120(21):4777-4785. Epub 2021 Sep 21.

Research Laboratory of Electronics, Massachusetts Institute of Technology, Cambridge, Massachusetts; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, Massachusetts. Electronic address:

Studies of genetic disorders of sensorineural hearing loss have been instrumental in delineating mechanisms that underlie the remarkable sensitivity and selectivity that are hallmarks of mammalian hearing. For example, genetic modifications of TECTA and TECTB, which are principal proteins that comprise the tectorial membrane (TM), have been shown to alter auditory thresholds and frequency tuning in ways that can be understood in terms of changes in the mechanical properties of the TM. Here, we investigate effects of genetic modification targeting CEACAM16, a third important TM protein. Read More

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November 2021

Genes related to SNPs identified by Genome-wide association studies of age-related hearing loss show restriction to specific cell types in the adult mouse cochlea.

Hear Res 2021 10 4;410:108347. Epub 2021 Sep 4.

Department of Surgery, Yale School of Medicine, New Haven, CT, USA; Department of Neurology, Yale School of Medicine, New Haven, CT, USA. Electronic address:

ARHL has been thought to result from disordered hair cell function and their loss. ARHL has a significant genetic component. We sought to determine the expression in the cochlea of genes associated with single nucleotide polymorphisms linked to ARHL. Read More

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October 2021