227 results match your criteria Inner Ear Syndromic Sensorineural Hearing Loss


Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.

BMC Med Genomics 2022 Jun 16;15(1):133. Epub 2022 Jun 16.

ENT and Head and Neck Research Center, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Background: Transmembrane inner ear (TMIE) protein is an essential component of the mechanotransduction complex. In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Autosomal recessive deafness-6 (DFNB6) is caused by mutated TMIE, a gene in the high genetic heterogeneity spectrum of deafness. Read More

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Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases.

Acta Otolaryngol 2022 Mar-Apr;142(3-4):308-315. Epub 2022 Apr 28.

Department of Hearing Implant Sciences, Shinshu University School of Medicine, Nagano, Matsumoto, Japan.

Background: Cochlear implantation (CI) is an effective treatment for severe-to-profound hearing loss patients and is currently used as the standard therapeutic option worldwide. However, the outcomes of CI vary among patients.

Aims/objectives: This study aimed to clarify the clinical features for each etiological group as well as the effects of etiology on CI outcomes. Read More

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Metabolomic Studies in Inner Ear Pathologies.

Metabolites 2022 Feb 26;12(3). Epub 2022 Feb 26.

ENT Department and Cervico-Facial Surgery, University Center Hospital of Tours, 2 Boulevard Tonnellé, 37044 Tours, France.

Sensorineural hearing loss is the most common sensory deficit. The etiologies of sensorineural hearing loss have been described and can be congenital or acquired. For congenital non-syndromic hearing loss, mutations that are related to sites of cochlear damage have been discovered (e. Read More

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February 2022

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

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

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

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

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

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

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

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

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

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January 2022

Disruption of in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.

Front Cell Neurosci 2021 15;15:804345. Epub 2021 Dec 15.

Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Mutations in a number of genes encoding mitochondrial aminoacyl-tRNA synthetases lead to non-syndromic and/or syndromic sensorineural hearing loss in humans, while their cellular and physiological pathology in cochlea has rarely been investigated . In this study, we showed that histidyl-tRNA synthetase HARS2, whose deficiency is associated with Perrault syndrome 2 (PRLTS2), is robustly expressed in postnatal mouse cochlea including the outer and inner hair cells. Targeted knockout of in mouse hair cells resulted in delayed onset (P30), rapidly progressive hearing loss similar to the PRLTS2 hearing phenotype. Read More

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December 2021

Case Report: Novel Compound Heterozygous Variants in Associated With Congenital Deafness in a Chinese Family.

Front Genet 2021 17;12:766973. Epub 2021 Nov 17.

Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.

Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in modulating the assembly of the actin cytoskeleton and are responsible for the proper structure and function of stereocilia in the inner ear. Read More

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November 2021

Genetics of Inner Ear Malformations: A Review.

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

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

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

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October 2021

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

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

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

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

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October 2021

Cochlear implantation in Branchiootorenal syndrome - case report and review of the literature.

Cochlear Implants Int 2022 Jan 9;23(1):52-57. Epub 2021 Sep 9.

Department of Otorhinolaryngology Head & Neck Surgery and Audiology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen Ø, Denmark.

Introduction: Branchiootorenal syndrome (BOR) manifests with branchial fistulae, otological anomalies and renal dysplasia. Management remains largely symptomatic. The most common consequence of BOR is mild-to-profound sensorineural, conductive or mixed hearing loss, where conventional hearing aids (HA) provide limited benefit. Read More

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January 2022

IGF-1 Haploinsufficiency Causes Age-Related Chronic Cochlear Inflammation and Increases Noise-Induced Hearing Loss.

Cells 2021 07 3;10(7). Epub 2021 Jul 3.

Institute for Biomedical Research "Alberto Sols" (IIBM), Spanish National Research Council-Autonomous University of Madrid (CSIC-UAM), 28029 Madrid, Spain.

Insulin-like growth factor 1 (IGF-1) deficiency is an ultrarare syndromic human sensorineural deafness. Accordingly, IGF-1 is essential for the postnatal maturation of the cochlea and the correct wiring of hearing in mice. Less severe decreases in human IGF-1 levels have been associated with other hearing loss rare genetic syndromes, as well as with age-related hearing loss (ARHL). Read More

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Embryology, Malformations, and Rare Diseases of the Cochlea.

Laryngorhinootologie 2021 04 30;100(S 01):S1-S43. Epub 2021 Apr 30.

Institut für Neuroradiologie, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30625 Hannover.

Despite the low overall prevalence of individual rare diseases, cochlear dysfunction leading to hearing loss represents a symptom in a large proportion. The aim of this work was to provide a clear overview of rare cochlear diseases, taking into account the embryonic development of the cochlea and the systematic presentation of the different disorders. Although rapid biotechnological and bioinformatic advances may facilitate the diagnosis of a rare disease, an interdisciplinary exchange is often required to raise the suspicion of a rare disease. Read More

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Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.

Hum Genet 2022 Apr 7;141(3-4):363-382. Epub 2021 Jul 7.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Porter Neuroscience Research Center, Room 1F-143A, Bethesda, MD, 20892, USA.

Stereocilia protrude up to 100 µm from the apical surface of vertebrate inner ear hair cells and are packed with cross-linked filamentous actin (F-actin). They function as mechanical switches to convert sound vibration into electrochemical neuronal signals transmitted to the brain. Several genes encode molecular components of stereocilia including actin monomers, actin regulatory and bundling proteins, motor proteins and the proteins of the mechanotransduction complex. Read More

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Sensorineural Hearing Loss and Mitochondrial Apoptosis of Cochlear Spiral Ganglion Neurons in Fibroblast Growth Factor 13 Knockout Mice.

Front Cell Neurosci 2021 16;15:658586. Epub 2021 Jun 16.

The Key Laboratory of Neural and Vascular Biology, Ministry of Education, Hebei Medical University, Shijiazhuang, China.

Deafness is known to occur in more than 400 syndromes and accounts for almost 30% of hereditary hearing loss. The molecular mechanisms underlying such syndromic deafness remain unclear. Furthermore, deafness has been a common feature in patients with three main syndromes, the BÖrjeson-Forssman-Lehmann syndrome, Wildervanck syndrome, and Congenital Generalized Hirsutism, all of which are characterized by loss-of-function mutations in the gene. Read More

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Usher Syndrome: Genetics of a Human Ciliopathy.

Int J Mol Sci 2021 Jun 23;22(13). Epub 2021 Jun 23.

Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the disease. These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the "Usher interactome". Read More

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Efnb2 haploinsufficiency induces early gap junction plaque disassembly and endocytosis in the cochlea.

Brain Res Bull 2021 09 15;174:153-160. Epub 2021 Jun 15.

GIGA-Neurosciences, Unit of Cell and Tissue Biology, University of Liège, CHU B36, 4000, Liège, Belgium.

Chromosome 13q deletions encompassing EFNB2, which encodes the transmembrane protein ephrin-B2, are likely to cause syndromic forms of sensorineural hearing loss of unclear origin. Thus, unravelling the pathogenic mechanisms could help to improve therapeutic strategies. In the cochlea, adjacent non-sensory epithelial cells are connected via gap junction channels, the activity of which is critical to maintain cochlear homeostasis. Read More

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September 2021

Modeling gap junction beta 2 gene-related deafness with human iPSC.

Hum Mol Genet 2021 07;30(15):1429-1442

Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo 1138421, Japan.

There are >120 forms of non-syndromic deafness associated with identified genetic loci. In particular, mutation of the gap junction beta 2 gene (GJB2), which encodes connexin (CX)26 protein, is the most frequent cause of hereditary deafness worldwide. We previously described an induction method to develop functional CX26 gap junction-forming cells from mouse-induced pluripotent stem cells (iPSCs) and generated in vitro models for GJB2-related deafness. Read More

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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 04 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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Correlation of cochlear aperture stenosis with cochlear nerve deficiency in congenital unilateral hearing loss and prognostic relevance for cochlear implantation.

Sci Rep 2021 02 8;11(1):3338. Epub 2021 Feb 8.

Otorhinolaryngology and Audiology, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.

The use of neonatal hearing screening has enabled the identification of congenital unilateral sensorineural hearing loss (USNHL) immediately after birth, and today there are several intervention options available to minimize potential adverse effects of this disease, including cochlear implantation. This study aims to analyze the characteristics of the inner ear of a homogeneous group of congenital non-syndromic USNHL to highlight the features of the inner ear, which can help in clinical, surgical, and rehabilitative decision-making. A retrospective chart review was carried out at a tertiary referral center. Read More

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February 2021

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

J Assoc Res Otolaryngol 2021 04 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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On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.

Hear Res 2021 03 30;401:108162. Epub 2020 Dec 30.

Department of Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Belgium; Department of Otorhinolaryngology and Head & Neck surgery, Antwerp University Hospital, Belgium.

DeaFNess Autosomal Dominant 9 (DFNA9) is a dominant hereditary non-syndromic form of progressive sensorineural hearing loss often associated with vestibular dysfunction. DFNA9 is caused by pathogenic variants in the COCH gene. This gene encodes for cochlin, a protein that is abundantly expressed in the spiral ligament and spiral limbus of the inner ear but the function of cochlin is still not fully understood. Read More

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Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.

Audiol Neurootol 2021 22;26(4):226-235. Epub 2020 Dec 22.

Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland,

Background: Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form.

Objective: The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickler syndrome and included enlarged vestibular aqueduct (EVA) and persistent microhematuria.

Methods And Results: After sequencing of clinical exome, a known de novo COL2A1 pathogenic variant (c. Read More

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September 2021

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

Hum Mol Genet 2021 01;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

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

Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Clin Genet 2021 02 3;99(2):226-235. Epub 2020 Nov 3.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Read More

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February 2021

Increased susceptibility to acoustic trauma in a mouse model of non-syndromic sensorineural deafness, DFNB91.

Eur J Neurosci 2021 03 7;53(5):1638-1651. Epub 2020 Nov 7.

Department of Biochemistry & Molecular Biology, Monash University, Clayton, Vic., Australia.

Inactivating mutations of SERPINB6 in humans result in progressive hearing loss starting in early adulthood (DFNB91). We have previously shown that C57BL/6J mice lacking the orthologous gene, Serpinb6a, exhibit progressive hearing loss, which is associated with progressive loss of distinct cell types in the organ of Corti beginning with outer hair cells (OHCs). However, deafness in these animals occurs much earlier than expected, possibly because C57BL/6J mice also carry an age-related hearing loss mutation in the cadherin 23 gene (Cdh23 ) that causes late onset hearing loss. Read More

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Usher syndrome: clinical features, molecular genetics and advancing therapeutics.

Ther Adv Ophthalmol 2020 Jan-Dec;12:2515841420952194. Epub 2020 Sep 17.

Development, Ageing and Disease, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.

Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf-blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with accounting for >50% of type 1 and contributing to approximately 80% of type 2 Usher syndrome. Read More

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September 2020