798 results match your criteria Inner Ear Genetic Sensorineural Hearing Loss

Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.

Int J Mol Sci 2021 Apr 10;22(8). Epub 2021 Apr 10.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of hearing loss is genetic. Hearing loss can either be non-syndromic, if hearing loss is the only clinical manifestation, or syndromic, if the hearing loss is accompanied by a collage of other clinical manifestations. Read More

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A New Pathogenic Variant in Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.

Genes (Basel) 2021 Apr 21;12(5). Epub 2021 Apr 21.

Department of Otorhinolaryngology, Head and Neck Surgery, Brussels Health Campus, Vrije Universiteit Brussel, 1090 Brussels, Belgium.

Incomplete partition type III (IP-III) is a relatively rare inner ear malformation that has been associated with a gene mutation. The IP-III anomaly is mainly characterized by incomplete separation of the modiolus of the cochlea from the internal auditory canal. We describe a 71-year-old woman with profound sensorineural hearing loss diagnosed with an IP-III of the cochlea that underwent cochlear implantation. Read More

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A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.

Int J Pediatr Otorhinolaryngol 2021 Apr 14;145:110711. Epub 2021 Apr 14.

Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China; Regional Key Laboratory of Early Prevention and Treatment of High-Rise Tumors, Nanning, 530021, China. Electronic address:

Objective: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hearing loss. The aim of this study was to analyze the clinical features and investigate the genetic cause of WS2 in a small family from Guangxi Zhuang Autonomous region.

Methods: Whole-exome sequencing and mutational analysis were used to identify disease-causing genes in this family. Read More

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Advances and challenges in adeno-associated viral inner-ear gene therapy for sensorineural hearing loss.

Mol Ther Methods Clin Dev 2021 Jun 10;21:209-236. Epub 2021 Mar 10.

Department of Otorhinolaryngology, Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

There is growing attention and effort focused on treating the root cause of sensorineural hearing loss rather than managing associated secondary characteristic features. With recent substantial advances in understanding sensorineural hearing-loss mechanisms, gene delivery has emerged as a promising strategy for the biological treatment of hearing loss associated with genetic dysfunction. There are several successful and promising proof-of-principle examples of transgene deliveries in animal models; however, there remains substantial further progress to be made in these avenues before realizing their clinical application in humans. Read More

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Toward the Pathogenicity of the p.C565Y Variant Using a Genetically Driven Mouse Model.

Int J Mol Sci 2021 Mar 10;22(6). Epub 2021 Mar 10.

Department of Otolaryngology, National Taiwan University Hospital, Taipei 100, Taiwan.

Recessive variants of the gene are globally a common cause of hearing impairment. In the past, cell lines and transgenic mice were widely used to investigate the pathogenicity associated with variants. However, discrepancies in pathogenicity between humans and cell lines or transgenic mice were documented for some variants. Read More

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Using the Zebrafish Lateral Line to Understand the Roles of Mitochondria in Sensorineural Hearing Loss.

Front Cell Dev Biol 2020 5;8:628712. Epub 2021 Feb 5.

Department of Otolaryngology, Washington University School of Medicine, St. Louis, MO, United States.

Hair cells are the mechanosensory receptors of the inner ear and can be damaged by noise, aging, and ototoxic drugs. This damage often results in permanent sensorineural hearing loss. Hair cells have high energy demands and rely on mitochondria to produce ATP as well as contribute to intracellular calcium homeostasis. Read More

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February 2021

Human induced pluripotent stem cells and CRISPR/Cas-mediated targeted genome editing: Platforms to tackle sensorineural hearing loss.

Stem Cells 2021 Feb 14. Epub 2021 Feb 14.

Eaton Peabody Laboratories, Department of Otolaryngology Head and Neck Surgery, Massachusetts Eye and Ear, Boston, Massachusetts, USA.

Hearing loss (HL) is a major global health problem of pandemic proportions. The most common type of HL is sensorineural hearing loss (SNHL) which typically occurs when cells within the inner ear are damaged. Human induced pluripotent stem cells (hiPSCs) can be generated from any individual including those who suffer from different types of HL. Read More

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February 2021

Attitudes of Potential Participants Towards Potential Gene Therapy Trials in Autosomal Dominant Progressive Sensorineural Hearing Loss.

Otol Neurotol 2021 03;42(3):384-389

Department of Otorhinolaryngology and Head & Neck surgery, Antwerp University Hospital, Edegem.

Background: Advances in gene therapeutic approaches to treat sensorineural hearing loss (SNHL) confront us with future challenges of translating these animal studies into clinical trials. Little is known on patient attitudes towards future innovative therapies.

Objective: We aimed to better understand the willingness of patients with progressive SNHL and vestibular function loss of autosomal dominant (AD) inheritance to participate in potential gene therapy trials to prevent, stabilize, or slow down hearing loss. Read More

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Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss.

J Pediatr Genet 2021 Mar 9;10(1):70-73. Epub 2020 Mar 9.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Read More

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A human induced pluripotent stem cell-based modular platform to challenge sensorineural hearing loss.

Stem Cells 2021 Jan 31. Epub 2021 Jan 31.

Department of Biology, CLAS, University of Iowa, Iowa City, Iowa, USA.

The sense of hearing depends on a specialized sensory organ in the inner ear, called the cochlea, which contains the auditory hair cells (HCs). Noise trauma, infections, genetic factors, side effects of ototoxic drugs (ie, some antibiotics and chemotherapeutics), or simply aging lead to the loss of HCs and their associated primary neurons. This results in irreversible sensorineural hearing loss (SNHL) as in mammals, including humans; the inner ear lacks the capacity to regenerate HCs and spiral ganglion neurons. Read More

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January 2021

Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art.

J Assoc Res Otolaryngol 2021 Apr 28;22(2):95-105. Epub 2021 Jan 28.

Department of Otolaryngology-Head and Neck Surgery, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL, 33136, USA.

Progressive non-syndromic sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment, affecting more than a third of individuals over the age of 65. PNSHL includes noise-induced hearing loss (NIHL) and inherited forms of deafness, among which is delayed-onset autosomal dominant hearing loss (AD PNSHL). PNSHL is a prime candidate for genetic therapies due to the fact that PNSHL has been studied extensively, and there is a potentially wide window between identification of the disorder and the onset of hearing loss. Read More

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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Hum Genet 2021 Jun 26;140(6):915-931. Epub 2021 Jan 26.

Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2, encoding a tetraspan protein, as a new deafness gene. Homozygosity mapping followed by exome sequencing identified a 14. Read More

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[Application value of high-throughput gene copy number variation detection in the diagnosis of enlarged vestibular aqueduct].

Zhonghua Yi Xue Za Zhi 2021 Jan;101(2):103-107

Department of Otolaryngology-Head and Neck Surgery, Province Key Laboratory of Otolaryngology Critical Diseases, Xiangya Hospital, Central South University, Changsha 410008, ChinaFeng Yong is working at the Department of Otolaryngology-Head and Neck Surgery, Changsha Central Hospital, Nanhua University, Changsha 410008, China.

To explore the application value of high-throughput gene detection method of copy number variations (CNV) in the diagnosis of enlarged vestibular aqueduct (EVA). A total of 46 nonsyndromic hearing loss patients with EVA were recruited between May 2014 and December 2016 from Department of Otolaryngology of Xiangya Hospital, Central South University. A high-throughput multiplex analysis method based on double ligation and multiple fluorescent PCR was designed and performed to detect CNV in the three EVA-related genes (SLC26A4, FOXI1 and KCNJ10). Read More

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January 2021

Intrinsically Self-renewing Neuroprogenitors From the A/J Mouse Spiral Ganglion as Virtually Unlimited Source of Mature Auditory Neurons.

Front Cell Neurosci 2020 9;14:395. Epub 2020 Dec 9.

The Inner Ear and Olfaction Lab, Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Nearly 460 million individuals are affected by sensorineural hearing loss (SNHL), one of the most common human sensory disorders. In mammals, hearing loss is permanent due to the lack of efficient regenerative capacity of the sensory epithelia and spiral ganglion neurons (SGN). Sphere-forming progenitor cells can be isolated from the mammalian inner ear and give rise to inner ear specific cell types . Read More

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December 2020

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Hum Mol Genet 2021 Jan;29(22):3691-3705

Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, 05508-090, São Paulo, Brazil.

Hearing loss is a frequent sensory impairment in humans and genetic factors account for an elevated fraction of the cases. We have investigated a large family of five generations, with 15 reported individuals presenting non-syndromic, sensorineural, bilateral and progressive hearing loss, segregating as an autosomal dominant condition. Linkage analysis, using SNP-array and selected microsatellites, identified a region of near 13 cM in chromosome 20 as the best candidate to harbour the causative mutation. Read More

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January 2021

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.

Proc Natl Acad Sci U S A 2020 12 23;117(49):31278-31289. Epub 2020 Nov 23.

Centre de Bioinformatique, Biostatistique et Biologie Intégrative, Institut Pasteur, 75015 Paris, France.

Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathogenic variants, considered indicative of Mendelian forms. Read More

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December 2020

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.

Hereditas 2020 Nov 24;157(1):47. Epub 2020 Nov 24.

The Key Laboratory for Human Disease Gene Study of Sichuan Province , Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, The First Ring Road West Section 2 #32, Chengdu, Sichuan, 610071, PR China.

Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p. Read More

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November 2020

Self-complementarity in adeno-associated virus enhances transduction and gene expression in mouse cochlear tissues.

PLoS One 2020 23;15(11):e0242599. Epub 2020 Nov 23.

Program in Neuroscience, University of Mississippi Medical Center, Jackson, MS, United States of America.

Sensorineural hearing loss is one of the most common disabilities worldwide. Such prevalence necessitates effective tools for studying the molecular workings of cochlear cells. One prominent and effective vector for expressing genes of interest in research models is adeno-associated virus (AAV). Read More

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January 2021

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.

Mol Genet Genomic Med 2020 12 18;8(12):e1550. Epub 2020 Nov 18.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

Background: Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL). Herein, we subjected two patients with bilateral sensorineural HL in two distinct consanguineous Iranian families to figure out the underlying genetic factors. Read More

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December 2020

Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.

Front Genet 2020 22;11:565216. Epub 2020 Oct 22.

Ear Science Institute Australia, Nedlands, WA, Australia.

Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and severely affects the senses of hearing, vision, and balance. Three clinically distinct types of USH have been identified, decreasing in severity from Type 1 to 3, with symptoms of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP), and vestibular dysfunction. There are currently nine confirmed and two suspected USH-causative genes, and a further three candidate loci have been mapped. Read More

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October 2020

Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.

Ear Hear 2020 Nov/Dec;41(6):1598-1605

Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, Granada, Spain.

Objectives: Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo, and tinnitus. Familial MD has been reported in 6 to 9% of sporadic cases, and few genes including FAM136A, DTNA, PRKCB, SEMA3D, and DPT have been involved in single families, suggesting genetic heterogeneity. In this study, the authors recruited 46 families with MD to search for relevant candidate genes for hearing loss in familial MD. Read More

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November 2020

Adenosine A2B receptor: A pathogenic factor and a therapeutic target for sensorineural hearing loss.

FASEB J 2020 12 1;34(12):15771-15787. Epub 2020 Nov 1.

Department of Biochemistry and Molecular Biology, The University of Texas Health Science Center at Houston, Houston, TX, USA.

Over 466 million people worldwide are diagnosed with hearing loss (HL). About 90% of HL cases are sensorineural HL (SNHL) with treatments limited to hearing aids and cochlear implants with no FDA-approved drugs. Intriguingly, ADA-deficient patients have been reported to have bilateral SNHL, however, its underlying cellular and molecular basis remain unknown. Read More

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December 2020

Rare Causes of Unilateral Sensorineural Hearing Loss in Adults: Our Experience.

Indian J Otolaryngol Head Neck Surg 2020 Dec 28;72(4):428-436. Epub 2020 Mar 28.

Department of Otorhinolaryngology and Head-Neck Surgery, All India Institute of Medical Sciences, Rishikesh, 249203 India.

Bilateral hearing loss is attributed to almost 50% of times with genetic etiology, while most unilateral sensorineural hearing loss (USNHL) are not attributable to it. Limited literature is available on epidemiology of USNHL. Etiology of USNHL is very diverse and vast, it ranges from as common as Meniere's disease to as rare as an electric shock injury. Read More

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December 2020

Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation.

Biochem Biophys Res Commun 2020 11 9;532(4):675-681. Epub 2020 Sep 9.

Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

Hearing loss is the most prevalent hereditary sensory disorder in children. Approximately 2 in 1000 infants are affected by genetic hearing loss. The PJVK gene, which encodes the pejvakin protein, has been linked to autosomal recessive non-syndromic hearing loss DFNB59. Read More

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November 2020

Research progress on flat epithelium of the inner ear.

Physiol Res 2020 11 9;69(5):775-785. Epub 2020 Sep 9.

Department of Otolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Sensorineural hearing loss and vertigo, resulting from lesions in the sensory epithelium of the inner ear, have a high incidence worldwide. The sensory epithelium of the inner ear may exhibit extreme degeneration and is transformed to flat epithelium (FE) in humans and mice with profound sensorineural hearing loss and/or vertigo. Various factors, including ototoxic drugs, noise exposure, aging, and genetic defects, can induce FE. Read More

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November 2020

[Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene].

Vestn Otorinolaringol 2020 ;85(4):65-69

Research Center for Medical Genetics, Moscow, Russia.

Congenital hearing loss is one of the most frequent inherited human pathologies, occurring in 1-2 out of 1000 newborns. X-linked hearing loss occurs in 1-5% of all congenital hearing impairments. The proband (a man) and his affected brother have profound prelingual non-syndromic neurosensory hearing loss. Read More

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September 2020

A New Pathogenic Variant in the TRIOBP Associated with Profound Deafness Is Remediable with Cochlear Implantation.

Audiol Neurootol 2021 2;26(2):76-84. Epub 2020 Sep 2.

Department of Otolaryngology and Head and Neck Surgery, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium,

Background And Objectives: A rare type of nonsyndromic autosomal recessive hereditary hearing loss is caused by pathogenic mutations in the TRIOBP gene mostly involving exons 6 and 7. These mutations cause hearing loss originating from dysfunction of sensory inner ear hair cells. Of all the affected siblings, 2 brothers and 1 sister, part of an Afghan family, were referred to our clinic for diagnostic workup and candidacy selection for cochlear implantation (CI). Read More

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September 2020

Association Between Incomplete Partition Type III and Abnormal Hypothalamic Morphology: Further Imaging Evidence.

J Comput Assist Tomogr 2020 Sep/Oct;44(5):704-707

Department of Otorhinolaryngology, Faculty of Medicine, Eskisehir Osmangazi University, Meselik-Eskisehir, Turkey.

Purpose: Incomplete partition III (IP-III), characterized by congenital mixed or sensorineural hearing loss, is a rare genetic disease transmitted through X-linked mode of inheritance. Inner ear findings of IP-III have been well described and allow an immediate diagnosis to be made. Recently, an association between IP-III and distinct hypothalamic malformations has been reported in some of the patients with IP-III. Read More

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September 2020

Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice.

Mol Ther 2020 12 5;28(12):2662-2676. Epub 2020 Aug 5.

Department of Otolaryngology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

Usher syndrome is a syndromic form of hereditary hearing impairment that includes sensorineural hearing loss and delayed-onset retinitis pigmentosa (RP). Type 1 Usher syndrome (USH1) is characterized by congenital profound sensorineural hearing impairment and vestibular areflexia, with adolescent-onset RP. Systemic treatment with antisense oligonucleotides (ASOs) targeting the human USH1C c. Read More

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December 2020

Genetic Polymorphisms in Sudden Sensorineural Hearing Loss: An Update.

Ear Nose Throat J 2020 Aug 17:145561320944657. Epub 2020 Aug 17.

ENT & Audiology Department, University Hospital of Ferrara, Ferrara, Italy.

Objective: To investigate the association between genetic polymorphisms and sudden sensorineural hearing loss (SSNHL). Most of the SSNHL cases still remain idiopathic, and several etiopathogenetic hypotheses, including a genetic predisposition, have been proposed.

Methods: A literature review was conducted using different databases: Medline/PubMed, EMBASE, and CINAHL, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Read More

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