681 results match your criteria Inner Ear Genetic Sensorineural Hearing Loss


Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction.

Neurotherapeutics 2019 Apr 10. Epub 2019 Apr 10.

Department of Special Education and Communication Disorders, University of Nebraska-Lincoln, 304 Barkley Memorial Center, Lincoln, NE, 68583, USA.

Antisense oligonucleotides (ASOs) have shown potential as therapeutic molecules for the treatment of inner ear dysfunction. The peripheral sensory organs responsible for both hearing and equilibrium are housed within the inner ear. Hearing loss and vestibular balance problems affect a large portion of the population and limited treatment options exist. Read More

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http://dx.doi.org/10.1007/s13311-019-00729-0DOI Listing
April 2019
1 Read

Targeted Next Generation Sequencing Revealed a Novel Homozygous Mutation in Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family.

Front Genet 2019 5;10. Epub 2019 Feb 5.

Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.

Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of hereditary hearing impairment. Genotypically and phenotypically NSHL is extremely heterogenous and follow either autosomal dominant or autosomal recessive or X-linked mode of inheritance. Read More

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http://dx.doi.org/10.3389/fgene.2019.00001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370629PMC
February 2019
1 Read

[The molecular mechanisms underpinning auditory neuropathy].

Authors:
K Wang L Luo Z Z He

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Feb;54(2):149-156

Department of Biomedical Sciences, Creighton University, Omaha, Nebraska 68178, USA.

Auditory neuropathy (AN) is a hearing disorder where cochlear inner hair cell and/or the auditory nerve function is disrupted while outer hair cell function is normal. It can affect people of all ages, from infancy to adulthood. People with auditory neuropathy may have normal hearing threshold, or hearing loss ranging from mild to severe; they always have poor speech-perception abilities. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1673-0860.2019.02.013DOI Listing
February 2019

AAV2.7m8 is a powerful viral vector for inner ear gene therapy.

Nat Commun 2019 01 25;10(1):427. Epub 2019 Jan 25.

Neurotology Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health, Bethesda, MD, 20892, USA.

Adeno-associated virus (AAV) has been successfully used to deliver gene therapy to improve auditory function in mouse models of hereditary hearing loss. Many forms of hereditary hearing loss have mutations which affect the cochlear hair cells, the mechanosensory cells which allow for sound detection and processing. While most conventional AAVs infect inner hair cells (IHCs) with various efficiencies, they infect outer hair cells (OHCs) and supporting cells at lower levels in the cochlea. Read More

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http://dx.doi.org/10.1038/s41467-018-08243-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347594PMC
January 2019
12 Reads

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Audiol Neurootol 2018 24;23(6):326-334. Epub 2019 Jan 24.

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

Charcot-Marie-Tooth (CMT) syndrome is a clinically and genetically heterogeneous group of neuropathies affecting both peripheral motor and sensory nerves. Progressive sensorineural hearing loss, vestibular abnormalities, and dysfunction of other cranial nerves have been described. This is the second case report of otopathology in a patient with CMT syndrome. Read More

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https://www.karger.com/Article/FullText/495176
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http://dx.doi.org/10.1159/000495176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421093PMC
January 2019
11 Reads

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Front Genet 2018 30;9:600. Epub 2018 Nov 30.

Division of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Milan, Italy.

Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder including severe intrauterine and postnatal growth retardation, and dysmorphic features. Read More

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http://dx.doi.org/10.3389/fgene.2018.00600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284021PMC
November 2018
1 Read

[Gene therapy progress: hopes for Usher syndrome].

Med Sci (Paris) 2018 Oct 19;34(10):842-848. Epub 2018 Nov 19.

Institut Pasteur, Unité de génétique et physiologie de l'audition, 25, rue du Docteur Roux, 75724 Paris, Cedex 15, France - Inserm UMRS 1120, 75015 Paris, France - Sorbonne Universités, 75005 Paris, France - CNRS, UMRS 1120, 75015 Paris, France.

Hearing and balance impairment are major concerns and a serious public health burden, as it affects millions of people worldwide, but still lacks an effective curative therapy. Recent breakthroughs in preclinical and clinical studies using viral gene therapy suggest that such an approach might succeed in curing many genetic diseases. Our actual understanding and the comprehensive analysis of the molecular bases of genetic deafness forms have provided the multiple bridges toward gene therapy to correct, replace, or modify the expression of defective endogenous genes involved in deafness. Read More

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https://www.medecinesciences.org/10.1051/medsci/2018210
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http://dx.doi.org/10.1051/medsci/2018210DOI Listing
October 2018
15 Reads

Auditory disorders and future therapies with delivery systems.

J Tissue Eng 2018 Jan-Dec;9:2041731418808455. Epub 2018 Oct 30.

Institute of Tissue Regeneration Engineering (ITREN), Dankook University, Cheonan, Republic of Korea.

Auditory function takes a major part in human life. While sensorineural hearing loss is related with many factors including genetic disorders, age and noise, the clear causes are not well understood. Even more, the currently available treatments with drugs cause side effects, which thus are considered suboptimal. Read More

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http://dx.doi.org/10.1177/2041731418808455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207966PMC
October 2018
7 Reads

Larval Zebrafish Lateral Line as a Model for Acoustic Trauma.

eNeuro 2018 Jul-Aug;5(4). Epub 2018 Aug 30.

Department of Integrative Physiology and Neuroscience, Washington State University, Vancouver, WA 98686.

Excessive noise exposure damages sensory hair cells, leading to permanent hearing loss. Zebrafish are a highly tractable model that have advanced our understanding of drug-induced hair cell death, yet no comparable model exists for noise exposure research. We demonstrate the utility of zebrafish as model to increase understanding of hair cell damage from acoustic trauma and develop protective therapies. Read More

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http://eneuro.org/lookup/doi/10.1523/ENEURO.0206-18.2018
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http://dx.doi.org/10.1523/ENEURO.0206-18.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140105PMC
March 2019
12 Reads

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

BMC Med Genet 2018 09 4;19(1):157. Epub 2018 Sep 4.

Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, 100853, People's Republic of China.

Background: Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families displaying X-linked inheritance deafness-2 (DFNX2) and one sporadic case with indefinite inheritance pattern.

Methods: Direct DNA sequencing of the POU3F4 gene was performed in these families and in 100 Chinese individuals with normal hearing. Read More

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http://dx.doi.org/10.1186/s12881-018-0630-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122742PMC
September 2018
1 Read

Toward Cochlear Therapies.

Physiol Rev 2018 10;98(4):2477-2522

INSERM UMR 1051, Institute for Neurosciences of Montpellier , Montpellier , France ; and University of Montpellier, Montpellier , France.

Sensorineural hearing impairment is the most common sensory disorder and a major health and socio-economic issue in industrialized countries. It is primarily due to the degeneration of mechanosensory hair cells and spiral ganglion neurons in the cochlea via complex pathophysiological mechanisms. These occur following acute and/or chronic exposure to harmful extrinsic (e. Read More

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https://www.physiology.org/doi/10.1152/physrev.00053.2017
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http://dx.doi.org/10.1152/physrev.00053.2017DOI Listing
October 2018
11 Reads

Inner Ear Hair Cell Protection in Mammals against the Noise-Induced Cochlear Damage.

Neural Plast 2018 15;2018:3170801. Epub 2018 Jul 15.

ENT Institute and Department of Otorhinolaryngology of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200031, China.

Inner ear hair cells are mechanosensory receptors that perceive mechanical sound and help to decode the sound in order to understand spoken language. Exposure to intense noise may result in the damage to the inner ear hair cells, causing noise-induced hearing loss (NIHL). Particularly, the outer hair cells are the first and the most affected cells in NIHL. Read More

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http://dx.doi.org/10.1155/2018/3170801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079343PMC
December 2018
26 Reads

Photobiomodulation promotes adenoviral gene transduction in auditory cells.

Lasers Med Sci 2019 Mar 13;34(2):367-375. Epub 2018 Aug 13.

Beckman Laser Institute Korea, College of Medicine, Dankook University, Cheonan, South Korea.

Gene therapy is the delivery of a therapeutic gene into target cells to treat disorders by replacing disease-causing mutated genes with healthy ones. Gene therapy of the inner ear has been recently described, with applications for sensorineural hearing loss. However, gene delivery to the location of the inner ear, and thus efficacy of therapy, is challenging. Read More

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http://dx.doi.org/10.1007/s10103-018-2605-7DOI Listing
March 2019
1 Read
2.489 Impact Factor

[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

Rev Med Interne 2019 Jan 19;40(1):20-27. Epub 2018 Jul 19.

Service de médecine interne, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse.

Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. Read More

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http://dx.doi.org/10.1016/j.revmed.2018.06.005DOI Listing
January 2019
6 Reads

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

BMC Med Genet 2018 07 20;19(1):122. Epub 2018 Jul 20.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 700D, Houston, TX, 77030, USA.

Background: Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several forms of digenic inheritance have been reported. Read More

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http://dx.doi.org/10.1186/s12881-018-0618-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053831PMC
July 2018
7 Reads
2.083 Impact Factor

Potential of Gene and Cell Therapy for Inner Ear Hair Cells.

Biomed Res Int 2018 13;2018:8137614. Epub 2018 Jun 13.

Department of Otolaryngology-Head and Neck Surgery, College of Medicine, Chungnam National University, Daejeon, Republic of Korea.

Sensorineural hearing loss is caused by the loss of sensory hair cells (HCs) or a damaged afferent nerve pathway to the auditory cortex. The most common option for the treatment of sensorineural hearing loss is hearing rehabilitation using hearing devices. Various kinds of hearing devices are available but, despite recent advancements, their perceived sound quality does not mimic that of the "naïve" cochlea. Read More

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http://dx.doi.org/10.1155/2018/8137614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020521PMC
January 2019
7 Reads

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Hum Genet 2018 Jul 7;137(6-7):479-486. Epub 2018 Jul 7.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. Read More

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http://dx.doi.org/10.1007/s00439-018-1901-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478175PMC
July 2018
13 Reads
4.824 Impact Factor

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Eye (Lond) 2018 10 13;32(10):1608-1614. Epub 2018 Jun 13.

Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Department of Laboratory Medicine and School of Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan, 610072, China.

Objectives: USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. Read More

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http://www.nature.com/articles/s41433-018-0130-3
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http://dx.doi.org/10.1038/s41433-018-0130-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189035PMC
October 2018
1 Read

Cochlear hair cell regeneration: an emerging opportunity to cure noise-induced sensorineural hearing loss.

Drug Discov Today 2018 Aug 4;23(8):1564-1569. Epub 2018 May 4.

Hough Ear Institute, 3400 NW 56(th) Street, Oklahoma City, OK 73112, USA.

In mammals, cochlear hair cells have a pivotal role in transducing mechanical energy into electrical signals. Cochlear hair cells are sensitive to acoustic trauma, drug insults, aging, and environmental or genetic influences that can cause permanent hearing loss. Currently, many researchers have focused on noise-induced sensorineural hearing loss (SNHL). Read More

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http://dx.doi.org/10.1016/j.drudis.2018.05.001DOI Listing
August 2018
3 Reads
6.691 Impact Factor

Mitochondrial mutations associated with hearing and balance disorders.

Mutat Res 2018 07 10;810:39-44. Epub 2018 Mar 10.

Department of Otolaryngology-Head and Neck Surgery, McGill University, Canada. Electronic address:

Hearing and balance disorders are related to the inner ear and are among the major cause of falls in older adults. Hearing loss that commonly occurs with aging (aka presbyacusis) can result from noise exposure, smoking, ototoxic drugs and genetic factors such as mutations in nuclear and mitochondrial genes. Mutations in mitochondrial DNA (mtDNA) have been reported to play an important role in cell function by providing energy, as well as, cell death (apoptosis). Read More

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http://dx.doi.org/10.1016/j.mrfmmm.2018.03.003DOI Listing
July 2018
7 Reads

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

PLoS Genet 2018 03 28;14(3):e1007297. Epub 2018 Mar 28.

Laboratory of Molecular Genetics, Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, United States of America.

Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891075PMC
March 2018
3 Reads

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

Am J Med Genet A 2018 Apr;176(4):945-950

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating variants have been published. Read More

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http://dx.doi.org/10.1002/ajmg.a.38648DOI Listing
April 2018
7 Reads

A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.

Int J Pediatr Otorhinolaryngol 2018 Apr 31;107:97-100. Epub 2018 Jan 31.

Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China. Electronic address:

Objectives: To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome.

Methods: Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing subjects screened for mutations in deafness-related genes using the same method in previously studied were included as a control. Read More

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http://dx.doi.org/10.1016/j.ijporl.2018.01.037DOI Listing
April 2018
10 Reads

Mutation of , an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.

J Med Genet 2018 May 16;55(5):298-306. Epub 2018 Feb 16.

Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, China.

Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Read More

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http://dx.doi.org/10.1136/jmedgenet-2017-104954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931241PMC
May 2018
30 Reads

PMCA2 pump mutations and hereditary deafness.

Neurosci Lett 2018 01;663:18-24

University of Padua, Department of Physics and Astronomy "G. Galilei", Padua, Italy; Venetian Institute of Molecular Medicine (VIMM), Padua, Italy; CNR Institute of Cell Biology and Neurobiology, Monterotondo Scalo, Rome, Italy.

Hair cells of the inner ear detect sound stimuli, inertial or gravitational forces by deflection of their apical stereocilia. A small number of stereociliary cation-selective mechanotransduction (MET) channels admit K and Ca ions into the cytoplasm promoting hair cell membrane depolarization and, consequently, neurotransmitter release at the cell basolateral pole. Ca influx into the stereocilia compartment is counteracted by the unusual w/a splicing variant of plasma-membrane calcium-pump isoform 2 (PMCA2) which, unlike other PMCA2 variants, increases only marginally its activity in response to a rapid variation of the cytoplasmic free Ca concentration ([Ca]). Read More

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http://dx.doi.org/10.1016/j.neulet.2017.09.059DOI Listing
January 2018
1 Read

Protective effect of adenovirus-mediated erythropoietin expression on the spiral ganglion neurons in the rat inner ear.

Int J Mol Med 2018 May 5;41(5):2669-2677. Epub 2018 Feb 5.

Department of Otolaryngology, Southwest Hospital, The Third Military Medical University, Chongqing 400038, P.R. China.

The aim of the present study was to evaluate the expression of erythropoietin (Epo) and the Epo receptor (Epo‑R) in the spiral ganglion neurons (SGNs) of the rat inner ear, and to assess the effect of Epo adenovirus vector (Ad‑Epo) on the spontaneous apoptosis of SGNs. A total of 60 ears from 30 healthy neonatal (2‑3 days postnatal) Sprague‑Dawley rats were used to examine the expression of Epo in the SGNs. The rats were divided into three groups: The negative control group, the vector control group [infected with a green fluorescent protein expression vector (Ad‑GFP)] and the Ad‑Epo group (infected with Ad‑Epo). Read More

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http://dx.doi.org/10.3892/ijmm.2018.3455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846647PMC
May 2018
5 Reads

Acquired sensorineural hearing loss in children: current research and therapeutic perspectives.

Acta Otorhinolaryngol Ital 2017 Dec;37(6):500-508

Department of Otolaryngology, Catholic University of Sacred Heart, Rome, Italy.

The knowledge of mechanisms responsible for acquired sensorineural hearing loss in children, such as viral and bacterial infections, noise exposure, aminoglycoside and cisplatin ototoxicity, is increasing and progressively changing the clinical management of affected patients. Viral infections are by far the most relevant cause of acquired hearing loss, followed by aminoglycoside and platinum derivative ototoxicity; moreover, cochlear damage induced by noise overexposure, mainly in adolescents, is an emerging topic. Pharmacological approaches are still challenging to develop a truly effective cochlear protection; however, the use of steroids, antioxidants, antiviral drugs and other small molecules is encouraging for clinical practice. Read More

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http://dx.doi.org/10.14639/0392-100X-1574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5782428PMC
December 2017
1 Read

Regulation of Fn14 Receptor and NF-κB Underlies Inflammation in Meniere's Disease.

Front Immunol 2017 13;8:1739. Epub 2017 Dec 13.

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

Meniere's disease (MD) is a rare disorder characterized by episodic vertigo, sensorineural hearing loss, tinnitus, and aural fullness. It is associated with a fluid imbalance between the secretion of endolymph in the cochlear duct and its reabsorption into the subarachnoid space, leading to an accumulation of endolymph in the inner ear. Epidemiological evidence, including familial aggregation, indicates a genetic contribution and a consistent association with autoimmune diseases (AD). Read More

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http://dx.doi.org/10.3389/fimmu.2017.01739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733484PMC
December 2017
41 Reads

Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.

Int J Mol Sci 2018 Jan 10;19(1). Epub 2018 Jan 10.

Institute of Pharmacology and Toxicology, Paracelsus Medical University, Strubergasse 21, A-5020 Salzburg, Austria.

The prevalence and spectrum of sequence alterations in the gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of and , coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants. Read More

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http://dx.doi.org/10.3390/ijms19010209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796158PMC
January 2018
10 Reads

A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Int J Pediatr Otorhinolaryngol 2018 Jan 6;104:94-97. Epub 2017 Nov 6.

Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876173054
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http://dx.doi.org/10.1016/j.ijporl.2017.11.001DOI Listing
January 2018
22 Reads

A Novel Nano-approach for Targeted Inner Ear Imaging.

J Nanomed Nanotechnol 2017 Aug 31;8(4). Epub 2017 Aug 31.

Department of Otolaryngology, Head & Neck Surgery, University of Pennsylvania Health System, Philadelphia, USA.

During the last decade, there have been major improvements in imaging modalities and the development of molecular imaging in general. However detailed inner ear imaging still provides very limited information to physicians. This is unsatisfactory as sensorineural hearing loss is the main cause of permanent hearing loss in adults and at least 134 genetic mutations that result in congenital hearing loss have been identified. Read More

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http://dx.doi.org/10.4172/2157-7439.1000456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669391PMC
August 2017
6 Reads

Challenges and opportunities in developing targeted molecular imaging to determine inner ear defects of sensorineural hearing loss.

Nanomedicine 2018 02 24;14(2):397-404. Epub 2017 Oct 24.

Department of Otorhinolaryngology-Head & Neck Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA. Electronic address:

The development of inner ear gene carriers and delivery systems has enabled genetic defects to be repaired and hearing to be restored in mouse models. Today, promising advances in translational therapies provide confidence that targeted molecular therapy for inner ear diseases will be developed. Unfortunately, the currently available non-invasive modalities, such as Computerized Tomography scan or Magnetic Resonance Imaging provide insufficient resolution to identify most pathologies of the human inner ear, even when the current generation of contrast agents is utilized. Read More

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http://dx.doi.org/10.1016/j.nano.2017.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844828PMC
February 2018
13 Reads

A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts.

Mol Med Rep 2017 Dec 2;16(6):9011-9016. Epub 2017 Oct 2.

Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, Jiangsu 210008, P.R. China.

Enlarged vestibular aqueduct (EVA)‑associated hearing loss is frequently detected in individuals carrying the SLC26A4 mutation in the Chinese population. The present study aimed to identify the causative SLC26A4 coding mutations in a patient group with nonsyndromic hearing loss (NSHL) and EVA. Genomic DNA was extracted from blood samples obtained from 52 NSHL patients with EVA and from 60 normal controls. Read More

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https://www.spandidos-publications.com/10.3892/mmr.2017.7690
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http://dx.doi.org/10.3892/mmr.2017.7690DOI Listing
December 2017
16 Reads

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.

Orphanet J Rare Dis 2017 09 25;12(1):157. Epub 2017 Sep 25.

Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan.

Background: To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing loss (MFSNHL), among which TECTA is the most frequently reported; however, the prevalence of TECTA mutations is unknown. To elucidate the prevalence of TECTA mutation in MFSNHL and clarify genotype-phenotype correlations, we analyzed the genetic and clinical features of patients with MFSNHL. Read More

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http://dx.doi.org/10.1186/s13023-017-0708-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613382PMC
September 2017
11 Reads

Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.

Hum Mol Genet 2017 10;26(19):3722-3735

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype of the knockout mouse, which was developed on a primarily C57BL/6 (B6) strain background, MRL-Atp6v1b1vtx/vtx mutant mice exhibit profound hearing impairment, which is associated with enlarged endolymphatic compartments of the inner ear. Read More

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http://dx.doi.org/10.1093/hmg/ddx257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886195PMC
October 2017
14 Reads

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.

Proc Natl Acad Sci U S A 2017 09 23;114(36):9695-9700. Epub 2017 Aug 23.

INSERM, UMR 1120, Paris, France;

Our understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably improved during the past 20 y, but we are still far from curative treatments. We investigated gene replacement as a strategy for restoring inner ear functions in a mouse model of Usher syndrome type 1G, characterized by congenital profound deafness and balance disorders. These mice lack the scaffold protein sans, which is involved both in the morphogenesis of the stereociliary bundle, the sensory antenna of inner ear hair cells, and in the mechanoelectrical transduction process. Read More

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http://dx.doi.org/10.1073/pnas.1708894114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5594693PMC
September 2017
39 Reads

Auditory dysfunction in patients with Huntington's disease.

Clin Neurophysiol 2017 10 29;128(10):1946-1953. Epub 2017 Jul 29.

Department of Auditory Neuroscience, Institute of Experimental Medicine, The Czech Academy of Sciences, Prague, Czech Republic.

Objective: Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disease. The main clinical features are motor impairment, progressive cognitive deterioration and behavioral changes. The aim of our study was to find out whether patients with HD suffer from disorders of the auditory system. Read More

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http://dx.doi.org/10.1016/j.clinph.2017.07.403DOI Listing
October 2017
64 Reads

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

J Pediatr Genet 2017 Sep 7;6(3):181-185. Epub 2017 Mar 7.

Section of Pediatrics, Department of Translational Medical Sciences, "Federico II" University of Naples, Naples, Italy.

Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. Read More

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http://dx.doi.org/10.1055/s-0037-1599223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548532PMC
September 2017
6 Reads

A common -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

J Med Genet 2017 10 5;54(10):665-673. Epub 2017 Aug 5.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders (NIDCD), Bethesda, Maryland, USA.

Background: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with EVA have two mutant alleles (M2), one-fourth have one mutant allele (M1) and one-half have no mutant alleles (M0). Read More

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http://dx.doi.org/10.1136/jmedgenet-2017-104721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880640PMC
October 2017
20 Reads

Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents.

Int J Pediatr Otorhinolaryngol 2017 Oct 29;101:254-258. Epub 2017 Jul 29.

Clinic of Audiology & ENT, University of Ferrara, Italy.

Background: Enlarged Vestibular Aqueduct (EVA) is one of the most common congenital malformations associated with sensorineural or mixed hearing loss. The association between hearing loss and EVA is described in syndromic (i.e. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.07.042DOI Listing
October 2017
9 Reads

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.

Audiol Neurootol 2017 22;22(2):83-88. Epub 2017 Jul 22.

Department of Pediatric Otolaryngology, Necker Enfants-Malades Hospital, Paris, France.

Objective: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population.

Methods: The study is a retrospective review. Read More

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http://dx.doi.org/10.1159/000474928DOI Listing
August 2018
66 Reads

Clinical data analysis of genotypes and phenotypes of deafness gene mutations in newborns: A retrospective study.

Biosci Trends 2017 Sep 17;11(4):460-468. Epub 2017 Jul 17.

Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education.

We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations). Read More

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http://dx.doi.org/10.5582/bst.2017.01070DOI Listing
September 2017
14 Reads

The genetics of hair-cell function in zebrafish.

Authors:
Teresa Nicolson

J Neurogenet 2017 09 13;31(3):102-112. Epub 2017 Jul 13.

a Oregon Hearing Research Center and the Vollum Institute, Oregon Health and Science University , Portland , OR , USA.

Our ears are remarkable sensory organs, providing the important senses of balance and hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted neuroepithelia, have evolved to detect head movements and sounds with impressive sensitivity. The rub is that the inner ear is highly vulnerable to genetic lesions and environmental insults. Read More

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http://dx.doi.org/10.1080/01677063.2017.1342246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080859PMC
September 2017
5 Reads

Etiologic and Audiologic Characteristics of Patients With Pediatric-Onset Unilateral and Asymmetric Sensorineural Hearing Loss.

JAMA Otolaryngol Head Neck Surg 2017 09;143(9):912-919

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

Importance: Pediatric-onset unilateral and asymmetric sensorineural hearing loss (SNHL) is a common condition, but in most patients, the cause remains unclear; thus, determination of the hearing outlook is difficult.

Objective: To analyze the etiologic and audiologic characteristics of pediatric-onset unilateral and asymmetric SNHL.

Design, Setting, And Participants: In this retrospective cohort study performed from January 1, 2008, through December 31, 2016, patients at a tertiary referral center who were diagnosed with pediatric-onset unilateral or asymmetric SNHL were divided into 3 groups according to their hearing levels: unilateral hearing loss with scaled-out levels (UHL-SO), unilateral hearing loss with residual hearing (UHL-RH), and asymmetric hearing loss (AHL). Read More

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http://dx.doi.org/10.1001/jamaoto.2017.0945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710283PMC
September 2017
5 Reads

Transcriptome-wide comparison of the impact of Atoh1 and miR-183 family on pluripotent stem cells and multipotent otic progenitor cells.

PLoS One 2017 7;12(7):e0180855. Epub 2017 Jul 7.

Department of Biomedical Sciences, Creighton University, Omaha, Nebraska, United States of America.

Over 5% of the global population suffers from disabling hearing loss caused by multiple factors including aging, noise exposure, genetic predisposition, or use of ototoxic drugs. Sensorineural hearing loss is often caused by the loss of sensory hair cells (HCs) of the inner ear. A barrier to hearing restoration after HC loss is the limited ability of mammalian auditory HCs to spontaneously regenerate. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0180855PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501616PMC
September 2017
7 Reads

New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

Hum Mutat 2017 10 1;38(10):1421-1431. Epub 2017 Aug 1.

Institutes of Biomedical Science, Fudan University, Shanghai, China.

Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. At least 50% of hearing loss are due to a genetic etiology. Although hundreds of genes have been reported, there are still hundreds of related deafness genes to be found. Read More

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http://doi.wiley.com/10.1002/humu.23285
Publisher Site
http://dx.doi.org/10.1002/humu.23285DOI Listing
October 2017
8 Reads

Rhesus Cochlear and Vestibular Functions Are Preserved After Inner Ear Injection of Saline Volume Sufficient for Gene Therapy Delivery.

J Assoc Res Otolaryngol 2017 Aug 23;18(4):601-617. Epub 2017 Jun 23.

Vestibular NeuroEngineering Lab, Department of Otolaryngology-Head & Neck Surgery, Johns Hopkins University School of Medicine, 720 Rutland Ave., Ross Bldg Rm 830, Baltimore, MD, 21205, USA.

Sensorineural losses of hearing and vestibular sensation due to hair cell dysfunction are among the most common disabilities. Recent preclinical research demonstrates that treatment of the inner ear with a variety of compounds, including gene therapy agents, may elicit regeneration and/or repair of hair cells in animals exposed to ototoxic medications or other insults to the inner ear. Delivery of gene therapy may also offer a means for treatment of hereditary hearing loss. Read More

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http://dx.doi.org/10.1007/s10162-017-0628-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532186PMC
August 2017
29 Reads

Cochleovestibular gene transfer in neonatal mice by canalostomy.

Neuroreport 2017 Aug;28(11):682-688

aDepartment of Otolaryngology Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing bDepartment of Otolaryngology Head and Neck Surgery, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Impairments of the inner ear result in sensorineural hearing loss and vestibular dysfunction in humans. A large proportion of these disorders are congenital, and involve both auditory and vestibular systems. Therefore, genetic interventions to correct deficits must be administered during early developmental stages. Read More

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http://dx.doi.org/10.1097/WNR.0000000000000827DOI Listing
August 2017
4 Reads