731 results match your criteria Inner Ear Genetic Sensorineural Hearing Loss


[Hearing loss due to mutations or lack of the gene coding protein stereocillin].

Vestn Otorinolaringol 2020 ;85(2):14-20

National Resarch Center for Audiology and Hearing Rehabilitation, Moscow, Russia.

Objective: The description of a clinical picture and audiological features at the hearing loss caused by changes of a gene, coding protein stereocillin (MIM: 606440). Mutations in the numerous genes responsible for the inner ear proteins are the reason for congenital sensorineural hearing loss. The main cause of congenital bilateral sensorineural hearing loss in the Russian Federation are mutations in gene it reaches up 68% of cases identified in infancy. Read More

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http://dx.doi.org/10.17116/otorino20208502114DOI Listing
January 2020

Progress in Modeling and Targeting Inner Ear Disorders with Pluripotent Stem Cells.

Stem Cell Reports 2020 May 6. Epub 2020 May 6.

Department of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address:

Sensorineural hearing loss and vestibular dysfunction are caused by damage to neurons and mechanosensitive hair cells, which do not regenerate to any clinically relevant extent in humans. Several protocols have been devised to direct pluripotent stem cells (PSCs) into inner ear hair cells and neurons, which display many properties of their native counterparts. The efficiency, reproducibility, and scalability of these protocols are enhanced by incorporating knowledge of inner ear development. Read More

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http://dx.doi.org/10.1016/j.stemcr.2020.04.008DOI Listing

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.

Medicine (Baltimore) 2020 May;99(19):e19763

Department of Otorhinolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.

Introduction: Pendred syndrome (PDS)/DFNB 4 is a disorder with fluctuating and progressive hearing loss, vertigo, and thyroid goiter. We identified pathophysiology of a neurodegenerative disorder in PDS patient derived cochlear cells that were induced via induced pluripotent stem cells and found sirolimus, an mTOR inhibitor, as an inhibitor of cell death with the minimum effective concentration less than 1/10 of the approved dose for other diseases. Given that there is no rational standard therapy for PDS, we planned a study to examine effects of low dose oral administration of sirolimus for the fluctuating and progressive hearing loss, and the balance disorder of PDS by daily monitor of their audio-vestibular symptoms. Read More

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http://dx.doi.org/10.1097/MD.0000000000019763DOI Listing

Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Ménière's Disease.

Arch Iran Med 2020 May 1;23(5):319-325. Epub 2020 May 1.

ENT and Head & Neck Research Center and Department, Hazrat Rasoul Hospital, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.

Background: Ménière's disease (MD) is a common inner ear disorder which is characterized by recurrent attacks of vertigo, fluctuating sensorineural hearing loss (SNHL), tinnitus, and a sense of fullness in the affected ear. MD is a complex disorder; although six genes have been linked to familial autosomal dominant form of the disease, in many cases, the exact genetic etiology remains elusive.

Methods: To elucidate the genetic causes of MD in an Iranian family, we performed exome sequencing on all members of the family: consanguineous parents and four children (two affected and two unaffected). Read More

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http://dx.doi.org/10.34172/aim.2020.21DOI Listing
May 2020
1.108 Impact Factor

Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss.

Gene 2020 Jul 15;747:144677. Epub 2020 Apr 15.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Human Genetics and John P. Hussman Institute of Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address:

The progressive, late-onset, nonsyndromic, sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment globally, with presbycusis affecting greater than a third of individuals over the age of 65. The etiology underlying PNSHL include presbycusis, noise-induced hearing loss, drug ototoxicity, and delayed-onset autosomal dominant hearing loss (AD PNSHL). The objective of this article is to discuss the potential diagnostic and therapeutic applications of genomic medicine in PNSHL. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244213PMC

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

Ear Hear 2020 Apr 2. Epub 2020 Apr 2.

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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http://dx.doi.org/10.1097/AUD.0000000000000878DOI Listing

Genetic Hearing Loss Associated With Autoinflammation.

Front Neurol 2020 5;11:141. Epub 2020 Mar 5.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, United States.

Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural hearing loss can be associated with age, exposure to ototoxic drugs or noise, or mutations in nuclear or mitochondrial genes. However, it is idiopathic in some patients. Read More

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http://dx.doi.org/10.3389/fneur.2020.00141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066252PMC

New age-related hearing loss candidate genes in humans: an ongoing challenge.

Gene 2020 Jun 12;742:144561. Epub 2020 Mar 12.

Institute for Maternal and Child Health - IRCCS, Burlo Garofolo, Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

Age-related hearing loss (ARHL) is the most frequent sensory disorder in the elderly, affecting approximately one-third of people aged more than 65 years. Despite a large number of people affected, ARHL is still an area of unmet clinical needs, and only a few ARHL susceptibility genes have been detected so far. In order to further investigate the genetics of ARHL, we analyzed a series of 46 ARHL candidate genes, selected according to previous Genome Wide Association Studies (GWAS) data, literature updates and animal models, in a large cohort of 464 Italian ARHL patients. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144561DOI Listing

Irregular Contour of Inner Ear Structures and Hypomineralized Areas at Otic Capsule: Are They Other Additional Imaging Findings of Incomplete Partition-III?

J Comput Assist Tomogr 2020 May/Jun;44(3):386-388

Otorhinolaryngology, Eskisehir Osmangazi University, Faculty of Medicine, 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 inheritance. Incomplete partition III can be easily achieved based on pathognomonic computed tomography findings. The aims of this study were to investigate the otic capsule abnormalities in IP-III and to report irregular contour of membranous labyrinth and hypomineralized areas at otic capsule, which have not previously been described. Read More

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http://dx.doi.org/10.1097/RCT.0000000000000991DOI Listing

Etiology of newborn hearing impairment in Guangdong province: 10-year experience with screening, diagnosis, and follow-up.

World J Pediatr 2020 Jan 7. Epub 2020 Jan 7.

Division of Otology, Department of Otorhinolaryngology, Head and Neck Surgery, Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

Background: Hearing impairment is one of the most common birth defects in children. Universal newborn hearing screenings have been performed for 19 years in Guangdong province, China. A screening/diagnosis/intervention system has gradually been put in place. Read More

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http://dx.doi.org/10.1007/s12519-019-00325-4DOI Listing
January 2020

Genetic architecture of Meniere's disease.

Hear Res 2019 Dec 13:107872. Epub 2019 Dec 13.

Otology & Neurotology Group CTS 495, Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research, PfizerUniversity of Granada, Andalusian Regional Government, PTS Granada, Avenida de la Ilustración, 114, 18016, Granada, Spain; Department of Otolaryngology, Instituto de Investigación Biosanitaria Ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, 18016, Granada, Spain. Electronic address:

Meniere's disease (MD) is a complex disorder of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL), tinnitus and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based on the phenomenological association of clinical symptoms and the demonstration of SNHL during the vertigo attacks. Read More

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http://dx.doi.org/10.1016/j.heares.2019.107872DOI Listing
December 2019

The Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome.

J Int Adv Otol 2019 Dec;15(3):454-458

Department of Otolaryngology, Gifu University, Gifu, Japan.

Muckle-Wells syndrome (MWS), a subclass of cryopyrin-associated periodic syndrome (CAPS), sometimes includes complications of bilateral progressive sensorineural hearing loss. A 48-year-old woman had been diagnosed with pediatric rheumatic arthritis at aged 6 years; however, systematic therapy with prednisolone and methotrexate showed limited efficacy for her general fatigue and arthritic pain, and it never improved the hearing level. She underwent a cochlear implant surgery for progressive profound bilateral hearing loss. Read More

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http://dx.doi.org/10.5152/iao.2019.6871DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937186PMC
December 2019

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.

Proc Natl Acad Sci U S A 2019 12 27;116(51):25948-25957. Epub 2019 Nov 27.

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, INSERM UMRS 1120, 75015 Paris, France;

The function of outer hair cells (OHCs), the mechanical actuators of the cochlea, involves the anchoring of their tallest stereocilia in the tectorial membrane (TM), an acellular structure overlying the sensory epithelium. Otogelin and otogelin-like are TM proteins related to secreted epithelial mucins. Defects in either cause the DFNB18B and DFNB84B genetic forms of deafness, respectively, both characterized by congenital mild-to-moderate hearing impairment. Read More

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http://dx.doi.org/10.1073/pnas.1902781116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926040PMC
December 2019

[Bilateral intracochlear schwannomas in a patient with no genetic or clinical features of neurofibromatosis type 2. German version].

HNO 2019 Nov 22. Epub 2019 Nov 22.

Ear Science Institute of Australia, School of Surgery, University of Western Australia, 1/1 Salvado Road, 6008, Subiaco, Australien.

Schwannomas of the eighth cranial nerve are benign tumours commonly found in the internal auditory meatus or in the cerebellopontine angle. In most cases, they arise from the inferior or vestibular portion of the vestibular nerve. Rarely, these tumours present in the inner ear and are then called intralabyrinthine schwannomas. Read More

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http://dx.doi.org/10.1007/s00106-019-00751-wDOI Listing
November 2019

Long-term Outcomes in Down Syndrome Children After Cochlear Implantation: Particular Issues and Considerations.

Otol Neurotol 2019 12;40(10):1278-1286

Institute of Psychology Polish Academy of Sciences, Warsaw, Poland.

Objective: The aim of the study was to analyze the long-term outcomes after cochlear implantation in deaf children with Down syndrome (DS) regarding age at the first implantation and refer the results to preoperative radiological findings as well as postoperative auditory and speech performance. Additionally, the influence of the age at implantation and duration of CI use on postoperative hearing and language skills were closely analyzed in children with DS.

Study Design: Retrospective analysis. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002410DOI Listing
December 2019
1 Read

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.

Laryngoscope 2019 11;129(11):2574-2579

Department of Otorhinolaryngology, Head and Neck Surgery and Audiology Rigshospitalet/Gentofte, Hellerup.

Objective: To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct (NSEVA) associated with hearing loss.

Methods: In a cohort of 139 PS/NSEVA individuals, 115 persons from 95 unrelated families had full genetic sequencing of SLC26A4, and 113 had retrievable images for re-assessment of inner ear morphology. The association between the number of mutant alleles in SLC26A4, inner ear morphology (including endolymphatic sac size and protein content on magnetic resonance imaging), and hearing level (pure tone average) was explored. Read More

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http://dx.doi.org/10.1002/lary.27319DOI Listing
November 2019

Biomarkers in Vestibular Schwannoma-Associated Hearing Loss.

Front Neurol 2019 18;10:978. Epub 2019 Sep 18.

IdiPAZ Research Institute, Madrid, Spain.

Vestibular schwannomas (VSs) are benign tumors composed of differentiated neoplastic Schwann cells. They can be classified into two groups: sporadic VS and those associated with neurofibromatosis type 2 (NF2). VSs usually grow slowly, initially causing unilateral sensorineural hearing loss (HL) and tinnitus. Read More

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http://dx.doi.org/10.3389/fneur.2019.00978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759574PMC
September 2019
1 Read

Bilateral intracochlear schwannomas in a patient with no genetic or clinical features of neurofibromatosis type 2.

HNO 2020 Jan;68(Suppl 1):60-64

Ear Science Institute of Australia, School of Surgery, University of Western Australia, 1/1 Salvado Road, 6008, Subiaco, Australia.

Schwannomas of the eighth cranial nerve are benign tumours commonly found in the internal auditory meatus or in the cerebellopontine angle. In most cases, they arise from the inferior or vestibular portion of the vestibular nerve. Rarely, these tumours present in the inner ear and are then called intralabyrinthine schwannomas. Read More

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http://dx.doi.org/10.1007/s00106-019-00752-9DOI Listing
January 2020
1 Read

Pleiotrophin increases neurite length and number of spiral ganglion neurons in vitro.

Exp Brain Res 2019 Nov 12;237(11):2983-2993. Epub 2019 Sep 12.

Department of Otorhinolaryngology, Head and Neck Surgery, St. Elisabeth-Hospital, Ruhr-University Bochum, Bleichstr. 15, 44787, Bochum, Germany.

Acoustic trauma, aging, genetic defects or ototoxic drugs are causes for sensorineural hearing loss involving sensory hair cell death and secondary degeneration of spiral ganglion neurons. Auditory implants are the only available therapy for severe to profound sensorineural hearing loss when hearing aids do not provide a sufficient speech discrimination anymore. Neurotrophic factors represent potential therapeutic candidates to improve the performance of cochlear implants (CIs) by the support of spiral ganglion neurons (SGNs). Read More

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http://dx.doi.org/10.1007/s00221-019-05644-6DOI Listing
November 2019
2 Reads

Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease.

J Med Genet 2020 Feb 7;57(2):82-88. Epub 2019 Sep 7.

Otology & Neurotology Group CTS 495, Genomic Medicine Area, Centro de Genomica e Investigación Oncológica, Pfizer-Universidad de Granada-Junta de Andalucía, Granada, Spain

Introduction: Meniere's disease (MD) is a rare inner ear disorder with a significant genetic contribution defined by a core phenotype: episodic vertigo, sensorineural hearing loss and tinnitus. It has been mostly described in sporadic cases, familial cases being around 10% of the observed individuals. It is associated with an accumulation of endolymph in the inner ear, but the molecular underpinnings remain largely unknown. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106159DOI Listing
February 2020

First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.

Head Neck Pathol 2019 Sep 6. Epub 2019 Sep 6.

Department of Pathology, New York University School of Medicine, New York, NY, USA.

Pathogenic variants in COCH, encoding cochlin, cause DFNA9 deafness disorder with characteristic histopathologic findings of cochlin deposits in the inner and middle ears. Here, we present the first case of deafness associated with bilateral external auditory canal (EAC) cochlin deposits, previously unreported evidence suggestive of cochlin-derived amyloid formation, and a novel COCH variant. A 54-year-old woman presented with progressive sensorineural hearing loss and bilateral EAC narrowing by subcutaneous thickening. Read More

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http://dx.doi.org/10.1007/s12105-019-01073-7DOI Listing
September 2019
3 Reads

Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations?

Pediatr Radiol 2020 01 22;50(1):142-145. Epub 2019 Aug 22.

Department of Radiology, University of Minnesota, Minneapolis, MN, USA.

X-linked stapes gusher syndrome is a genetic form of deafness with distinct radiographic features on temporal bone CT. Hypothalamic hamartoma is a congenital glioneuronal anomaly of the hypothalamus. We report a potential association between these two rare anomalies that, to our knowledge, has not been reported. Read More

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http://dx.doi.org/10.1007/s00247-019-04497-zDOI Listing
January 2020
3 Reads

Inhibition of the Adenosine A Receptor Mitigates Excitotoxic Injury in Organotypic Tissue Cultures of the Rat Cochlea.

Cells 2019 08 12;8(8). Epub 2019 Aug 12.

Department of Physiology and The Eisdell Moore Centre, Faculty of Medical and Health Sciences, The University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.

The primary loss of cochlear glutamatergic afferent nerve synapses due to noise or ageing (cochlear neuropathy) often presents as difficulties in speech discrimination in noisy conditions (hidden hearing loss (HHL)). Currently, there is no treatment for this condition. Our previous studies in mice with genetic deletion of the adenosine A receptor (AR) have demonstrated better preservation of cochlear afferent synapses and spiral ganglion neurons after noise exposure compared to wildtype mice. Read More

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http://dx.doi.org/10.3390/cells8080877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721830PMC

The natural progression of low-frequency hearing loss in patients who meet hybrid implant system candidacy criteria.

Laryngoscope 2020 May 8;130(5):1299-1303. Epub 2019 Aug 8.

Department of Otolaryngology, Massachusetts Eye and Ear and Harvard University, Boston, Massachusetts, U.S.A.

Objectives/hypothesis: To investigate the natural progression of hearing loss in patients with high-frequency hearing loss whose audiograms met the criteria for a hybrid cochlear implant (CI).

Study Design: Retrospective database review.

Methods: We retrospectively identified patients who met the criteria for a hybrid CI from our audiometric database. Read More

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http://dx.doi.org/10.1002/lary.28217DOI Listing
May 2020
2 Reads

Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers.

Audiol Neurootol 2019 7;24(4):166-173. Epub 2019 Aug 7.

Audiology Unit, Department of Clinical Sciences and Community, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.

Objective: To describe clinical and imaging findings in a group of patients affected by nonsyndromic deafness A9 (DFNA9), using advanced magnetic resonance imaging (MRI) with 3-dimensional (3D) fluid-attenuated inversion recovery (FLAIR) sequence.

Method: A retrospective case review was conducted in a tertiary referral center in Italy. Four sequential adult DFNA9-affected patients, who had undergone MRI at our Department between January 2017 and June 2018, were enrolled (male = 2, female = 2; median age: 65. Read More

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http://dx.doi.org/10.1159/000501292DOI Listing
May 2020
3 Reads

Comparative Analysis of CT and MRI Diagnosis of Large Vestibular Aqueduct Syndrome (LVAS) in Children.

Authors:
Ling Yang Jie Liu

J Coll Physicians Surg Pak 2019 Aug;29(8):753-756

Department of Radiology, Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Hubei Province, Xiangyang 441021, China.

Objective: To analyse application value of CT and MRI in the diagnosis of large vestibular aqueduct syndrome (LVAS) in children.

Study Design: A descriptive study.

Place And Duration Of Study: Department of ENT, Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, China, from January 2014 to January 2018. Read More

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http://dx.doi.org/10.29271/jcpsp.2019.08.753DOI Listing
August 2019
2 Reads

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.

Genes (Basel) 2019 07 12;10(7). Epub 2019 Jul 12.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.

Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel's aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. Read More

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http://dx.doi.org/10.3390/genes10070529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678228PMC

Comparison of the prevalence and features of inner ear malformations in congenital unilateral and bilateral hearing loss.

Int J Pediatr Otorhinolaryngol 2019 Oct 28;125:92-97. Epub 2019 Jun 28.

Department of Otorhinolaryngology, Institute for Clinical Research, National Hospital Organization Mie National Hospital, Tsu, Mie, Japan.

Objectives: The aim of the study was to clarify differences in the prevalence and features of bony malformations in inner ear between congenital unilateral sensorineural hearing loss (USNHL) and congenital bilateral sensorineural hearing loss (BSNHL).

Methods: We conducted a retrospective study of 378 consecutive infants referred from routine newborn hearing screening in the past 18 years. Clinical background, audiological data, and temporal bone computed tomography (CT) findings were analyzed. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.06.028DOI Listing
October 2019

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

BMC Med Genet 2019 07 2;20(1):118. Epub 2019 Jul 2.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 35A Convent Drive, Room GF103, NIDCD/NIH, Bethesda, MD, USA.

Background: Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular goiter as part of Pendred syndrome. A haplotype of variants upstream of SLC26A4, called CEVA, acts as a pathogenic recessive allele in trans to mutations affecting the coding regions or splice sites of SLC26A4. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0853-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604142PMC
July 2019
4 Reads

Gene therapy for hearing loss.

Hum Mol Genet 2019 10;28(R1):R65-R79

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

Sensorineural hearing loss (SNHL) is the most common sensory disorder. Its underlying etiologies include a broad spectrum of genetic and environmental factors that can lead to hearing loss that is congenital or late onset, stable or progressive, drug related, noise induced, age related, traumatic or post-infectious. Habilitation options typically focus on amplification using wearable or implantable devices; however exciting new gene-therapy-based strategies to restore and prevent SNHL are actively under investigation. Read More

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http://dx.doi.org/10.1093/hmg/ddz129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796998PMC
October 2019
16 Reads

Abnormal Tectorial Membranes in Sensorineural Hearing Loss: A Human Temporal Bone Study.

Otol Neurotol 2019 08;40(7):e732-e738

Otopathology Laboratory, Department of Otolaryngology, Massachusetts Eye and Ear Infirmary.

Hypothesis: This study evaluates the morphological changes of the tectorial membrane (TM) in conjunction with degeneration of hair cells, interdental cells, and presence of endolymphatic hydrops (EH) in sensorineural hearing loss (HL) in the human using histopathology techniques.

Background: The TM plays an important role in mechanical transduction of acoustic energy, and pathology of the TM may result in HL.

Methods: All temporal bone (TB) specimens from the Massachusetts Eye and Ear Otopathology Laboratory from patients with various causes of sensorineural HL and morphological abnormalities of the TM were evaluated. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002286DOI Listing
August 2019
10 Reads

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Balkan Med J 2019 07 27;36(4):206-211. Epub 2019 May 27.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA

Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner ear anomalies can be isolated or occur along with a part of a syndrome involving other systems. Although astonishing progress has been made in research aimed at revealing the genetic causes of hearing loss in the past few decades, only a few genes have been linked to inner ear anomalies. Read More

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http://dx.doi.org/10.4274/balkanmedj.galenos.2019.2019.4.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636654PMC
July 2019
3 Reads

A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.

Hear Res 2019 08 26;379:79-88. Epub 2019 Apr 26.

ENT Institute and Otorhinolaryngology Department, Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; NHC Key Laboratory of Hearing Medicine (Fudan University), Shanghai, 200031, China; Institute of Biomedical Sciences, Fudan University, Shanghai, 200032, China; The Institutes of Brain Science and the Collaborative Innovation Center for Brain Science, Fudan University, Shanghai, 200032, China; Shanghai Engineering Research Centre of Cochlear Implant, Shanghai, 200031, China. Electronic address:

Myosin VI is an actin-associated molecular motor vital for auditory and vestibular function. It is encoded by MYO6 located on chromosome 6q13 in human. Pathogenic variants in MYO6 have been associated with both dominant and recessive forms of hearing loss. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03785955183061
Publisher Site
http://dx.doi.org/10.1016/j.heares.2019.04.014DOI Listing
August 2019
14 Reads

New molecular therapies for the treatment of hearing loss.

Pharmacol Ther 2019 08 8;200:190-209. Epub 2019 May 8.

Bionics Institute, East Melbourne, Australia; University of Melbourne, Medical Bionics Department, East Melbourne, Australia; University of Melbourne, Department of Surgery - Otolaryngology, East Melbourne, Australia. Electronic address:

An estimated 466 million people suffer from hearing loss worldwide. Sensorineural hearing loss is characterized by degeneration of key structures of the sensory pathway in the cochlea such as the sensory hair cells, the primary auditory neurons and their synaptic connection to the hair cells - the ribbon synapse. Various strategies to protect or regenerate these sensory cells and structures are the subject of intensive research. Read More

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http://dx.doi.org/10.1016/j.pharmthera.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626560PMC
August 2019
4 Reads

Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction.

Neurotherapeutics 2019 04;16(2):348-359

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554385PMC
April 2019
6 Reads

[The analysis of mutations in non-syndromic deafness gene SLC26A4 by next generation sequencing technology].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Apr;33(4):357-361

To analogize the distribution of nonsyndromic deafness gene SLC26A4 mutation and to characterize clinical profiles in patients with SLC26A4 mutation in order to understand their hereditary etiologies and provide evidence for deafness screening and accurate genetic counseling. SLC26A4 gene was first analized by MALDI-TOF-MS technology to detect the hot mutation c.919-2A>G in 57 cases. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2019.04.017DOI 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
12 Reads

[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
6 Reads

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.

BMC Med Genet 2019 02 13;20(1):30. Epub 2019 Feb 13.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chinese family under consanguineous marriage.

Case Presentation: A 28-year-old woman suffered a bilateral profound NSHL. Read More

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http://dx.doi.org/10.1186/s12881-019-0758-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373029PMC
February 2019
17 Reads

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
30 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
September 2019
36 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
28 Reads

Helios is a key transcriptional regulator of outer hair cell maturation.

Nature 2018 11 21;563(7733):696-700. Epub 2018 Nov 21.

Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD, USA.

The sensory cells that are responsible for hearing include the cochlear inner hair cells (IHCs) and outer hair cells (OHCs), with the OHCs being necessary for sound sensitivity and tuning. Both cell types are thought to arise from common progenitors; however, our understanding of the factors that control the fate of IHCs and OHCs remains limited. Here we identify Ikzf2 (which encodes Helios) as an essential transcription factor in mice that is required for OHC functional maturation and hearing. Read More

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http://dx.doi.org/10.1038/s41586-018-0728-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542691PMC
November 2018
49 Reads

[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
36 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
29 Reads

The Effect of the MicroRNA-183 Family on Hair Cell-Specific Markers of Human Bone Marrow-Derived Mesenchymal Stem Cells.

Audiol Neurootol 2018 31;23(4):208-215. Epub 2018 Oct 31.

Department of Genetic and Molecular Medicine, Hamadan University of Medical Sciences, Hamadan,

Hearing loss is considered the most common sensory disorder across the world. Nowadays, a cochlear implant can be an effective treatment for patients. Moreover, it is often believed that sensorineural hearing loss in humans is caused by loss or disruption of the function of hair cells in the cochlea. Read More

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http://dx.doi.org/10.1159/000493557DOI Listing
October 2019
3 Reads
1.852 Impact Factor

Rapamycin but not acarbose decreases age-related loss of outer hair cells in the mouse Cochlea.

Hear Res 2018 12 7;370:11-15. Epub 2018 Sep 7.

Dept. of Pathology and Geriatrics Center, University of Michigan, Ann Arbor, MI, United States.

Adding rapamycin or acarbose to diet at 9-10 months of age has been shown to significantly increase life span in both male and female UM-HET3 mice. The current study examined cochleae of male and female UM-HET3 mice at 22 months of age to determine if either treatment also influenced age-related loss of cochlear hair cells. A large loss of cochlear outer hair cells was observed at 22 months of age in untreated mice in both apical and basal halves of the cochlear spiral. Read More

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http://dx.doi.org/10.1016/j.heares.2018.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240471PMC
December 2018

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

Warsaw breakage syndrome: Further clinical and genetic delineation.

Am J Med Genet A 2018 11 14;176(11):2404-2418. Epub 2018 Sep 14.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and sensorineural hearing loss. Only seven cases have been reported in the English literature, and thus the information on the phenotype and genotype of this interesting condition is limited. We provide clinical and molecular information on five additional unrelated patients carrying novel bi-allelic variants in the DDX11 gene, identified via whole exome sequencing. Read More

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http://dx.doi.org/10.1002/ajmg.a.40482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289708PMC
November 2018
61 Reads

Generating inner ear organoids containing putative cochlear hair cells from human pluripotent stem cells.

Cell Death Dis 2018 09 11;9(9):922. Epub 2018 Sep 11.

Institute of Genetic Medicine, Newcastle University, Newcastle, UK.

In view of the prevalence of sensorineural hearing defects in an ageing population, the development of protocols to generate cochlear hair cells and their associated sensory neurons as tools to further our understanding of inner ear development are highly desirable. We report herein a robust protocol for the generation of both vestibular and cochlear hair cells from human pluripotent stem cells which represents an advance over currently available methods that have been reported to generate vestibular hair cells only. Generating otic organoids from human pluripotent stem cells using a three-dimensional culture system, we show formation of both types of sensory hair cells bearing stereociliary bundles with active mechano-sensory ion channels. Read More

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http://dx.doi.org/10.1038/s41419-018-0967-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134051PMC
September 2018
1 Read