207 results match your criteria Inner Ear Syndromic Sensorineural Hearing Loss

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

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

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

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

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

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

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

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

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

Sci Rep 2021 Feb 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 Apr 28;22(2):95-105. Epub 2021 Jan 28.

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

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

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

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

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

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

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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 Mar 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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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

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

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

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

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

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

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November 2020

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

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

Research Center for Medical Genetics, Moscow, Russia.

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

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September 2020

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

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

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

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

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December 2020

[Enlarged vestibular aqueduct syndrome-dehiscence syndromes-honeycomb mastoid : Pathophysiology and evidence for clinical differentiation].

Martin Westhofen

HNO 2020 May;68(5):336-343

Klinik für Hals-Nasen-Ohrenheilkunde und Plastische Kopf- und Halschirurgie, Uniklinik Aachen, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Deutschland.

Background: Differential diagnosis of dizziness with hearing loss requires standardized procedures for detection and classification of rare congenital and acquired malformations of the petrous part of the temporal bone.

Objective: The aim of this study was to present the physiology and pathophysiology of endolymphatic and perilymphatic pressure regulation, diagnostic guidelines, and aspects of prognosis and treatment.

Materials And Methods: Relevant publications and guidelines were evaluated and own cases are reported. Read More

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Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.

BMC Med Genet 2020 04 15;21(1):79. Epub 2020 Apr 15.

The Swedish Institute for Disability Research, Örebro University, Örebro, Sweden.

Background: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness. Read More

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Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report.

Int J Pediatr Otorhinolaryngol 2020 Jul 24;134:110018. Epub 2020 Mar 24.

Institute of Audiology, Dept. of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples Federico II, Naples, Italy; CEINGE- Advanced Biotechnologies, Naples, Italy. Electronic address:

Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene causative of a syndromic form (Pendred) as well as a non-syndromic form of hearing loss (DFNB4). We describe a clinical case presenting bilateral sensorineural hearing loss and enlarged vestibular aqueduct in which a novel homozygous SLC26A4 mutation was identified. Read More

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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Nat Commun 2020 03 12;11(1):1343. Epub 2020 Mar 12.

Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable number of patients appear to carry mono-allelic mutation. This suggests faulty pendrin regulatory machinery results in hearing loss. Read More

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Noncoding Microdeletion in Mouse Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.

J Neurosci 2020 04 9;40(15):2976-2992. Epub 2020 Mar 9.

Auditory Development and Restoration Program,

Hepatocyte growth factor (HGF) is a multifunctional protein that signals through the MET receptor. HGF stimulates cell proliferation, cell dispersion, neuronal survival, and wound healing. In the inner ear, levels of HGF must be fine-tuned for normal hearing. Read More

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Clinical Characteristics and In Vitro Analysis of Variants Causing Late-Onset Progressive Hearing Loss.

Genes (Basel) 2020 03 4;11(3). Epub 2020 Mar 4.

Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.

is known as a genetic cause of autosomal dominant and autosomal recessive inherited hearing loss. In this study, to clarify the frequency and clinical characteristics of hearing loss caused by gene mutations, a large-scale genetic analysis of Japanese patients with hearing loss was performed. By means of massively parallel DNA sequencing (MPS) using next-generation sequencing for 8074 Japanese families, we found 27 variants in 33 families, 22 of which are novel. Read More

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Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

Neurogenetics 2020 04 15;21(2):135-143. Epub 2020 Feb 15.

Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, CIBERER, 28034, Madrid, Spain.

KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensorineural deafness, and tubulopathy (EAST/SeSAME syndrome). Read More

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Cochlear Implantation From the Perspective of Genetic Background.

Anat Rec (Hoboken) 2020 03 6;303(3):563-593. Epub 2020 Feb 6.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.

While cochlear implantation (CI) technology has greatly improved over the past 40 years, one aspect of CI that continues to pose difficulties is the variability of outcomes due to numerous factors involved in postimplantation performance. The electric acoustic stimulation (EAS) system has expanded indications for CI to include patients with residual hearing, and is currently becoming a standard therapy for these patients. Genetic disorders are known to be the most common cause of congenital/early-onset sensorineural hearing loss, and are also involved in a considerable proportion of cases of late-onset hearing loss. Read More

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An Immunological Perspective to Non-syndromic Sensorineural Hearing Loss.

Front Immunol 2019 11;10:2848. Epub 2019 Dec 11.

Neurobiology and Genetics Division, Rajiv Gandhi Center for Biotechnology, Thiruvananthapuram, India.

Conventionally the etiology of congenital Non-Syndromic Hearing Loss has been attributed to mutations in the genes involved in ion homeostasis or the structural compartments of the inner ear. However, this contributes to only a part of the problem, as still the determinants for a large majority of the Non-Syndromic Hearing loss seems to be an enigma. Evidences indicate that pathogens like Rubella, Cytomegalovirus, and many other infections can also result in congenital hearing loss. Read More

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October 2020

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Biosci Rep 2020 01;40(1)

Southwest Hospital/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China.

Background: The USH2A gene encodes usherin, a basement membrane protein that is involved in the development and homeostasis of the inner ear and retina. Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). Molecular diagnosis can provide insight into the pathogenesis of these diseases, facilitate clinical diagnosis, and identify individuals who can most benefit from gene or cell replacement therapy. Read More

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January 2020

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

Int J Pediatr Otorhinolaryngol 2020 Feb 22;129:109790. Epub 2019 Nov 22.

Audiology and Otosurgery Unit, "Bambino Gesù" Pediatric Hospital, Rome, Italy.

In this report, we describe a novel, probably pathogenic hemizygous variant c.870G > T (p.Lys290Asn) in the POU3F4 gene in two deaf brothers from one Italian family with identical inner ear abnormalities specific to X-linked deafness-2 (DFNX2). Read More

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February 2020

Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct.

Acta Otolaryngol 2020 Jan 23;140(1):46-50. Epub 2019 Nov 23.

Department of Oto-Rhino-Laryngology, Head and Neck Surgery and Audiology, Rigshospitalet/Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.

Children with Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (NSEVA) represent a group of pre-lingual hearing-impaired individuals with rehabilitation challenges. To evaluate receptive language capabilities in a pediatric cohort with PS and NSEVA. Twenty-four (24) children diagnosed with either PS or NSEVA, were examined using the Peabody Picture Vocabulary Test (PPVT) and compared to a cohort of 55 Danish children with normal hearing, as well as to a mixed group of 29 children with hearing impairment of congenital and hereditary non-syndromal type. Read More

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January 2020

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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December 2019

A pediatric medulloblastoma presenting as isolated sensorineural hearing loss: Case report and review of the literature.

Int J Pediatr Otorhinolaryngol 2019 Nov 13;126:109640. Epub 2019 Aug 13.

Department of Pediatric Otolaryngology, Montreal Children's Hospital, McGill University Health Centre, 1001 Decarie, H4A 3J1, Montreal, Quebec, Canada. Electronic address:

Medulloblastoma is the most common pediatric malignant brain tumor and carries a relatively grim prognosis despite recent advances in multimodality therapy. Delays in diagnosis and treatment initiation may contribute to worst outcomes. Signs of increased intracranial pressure and ataxia are known presentations of posterior fossa tumors, but sensorineural hearing loss (SNHL) is a seldom reported symptom. Read More

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November 2019

A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.

Biochem Biophys Res Commun 2019 07 30;515(2):359-365. Epub 2019 May 30.

Institute of Developmental Biology, School of Life Science, Shandong University, Jinan, Shandong, China. Electronic address:

SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss (DFNB4). The mouse model is well used to study the pathology of Pendred syndrome, however, mice with different Slc26a4 mutations exhibit different phenotypes, and these mice have severe deafness and inner ear malformations that are not imitated less severely Human phenotype. In this study, we generated a knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation to mimic the most common mutation found in human. Read More

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[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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Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.

Hear Res 2019 04 22;375:14-24. Epub 2019 Feb 22.

Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, UT, 84132, USA; Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, UT, 84132, USA; Department of Otolaryngology Head and Neck Surgery, University of Utah, Salt Lake City, UT, 84132, USA. Electronic address:

Usher syndrome (USH) is the leading cause of inherited combined vision and hearing loss. However, mutations in most USH causative genes lead to other diseases, such as hearing loss only or vision loss only. The molecular mechanisms underlying the variable disease manifestations associated with USH gene mutations are unclear. Read More

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