184 results match your criteria Inner Ear Syndromic Sensorineural Hearing Loss


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

Neurogenetics 2020 Apr 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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http://dx.doi.org/10.1007/s10048-020-00605-6DOI Listing

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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http://dx.doi.org/10.3389/fimmu.2019.02848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919260PMC
December 2019

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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http://dx.doi.org/10.1016/j.ijporl.2019.109790DOI Listing
February 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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http://dx.doi.org/10.1097/MAO.0000000000002410DOI Listing
December 2019
1 Read

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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http://dx.doi.org/10.1016/j.ijporl.2019.109640DOI Listing
November 2019
2 Reads

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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http://dx.doi.org/10.1016/j.bbrc.2019.05.157DOI Listing
July 2019
22 Reads
2.297 Impact Factor

[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

[Clinical analysis of 54 patients with non-syndromic enlarged vestibular aqueduct].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Mar;33(3):255-258

Department of Otolaryngology Head and Neck Surgery, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, 450014, China.

To further recognize the clinical characteristics of non-syndromic enlarged vestibular aqueduct through the retrospective analysis of cases, with the purpose of providing references for clinical diagnosis and treatment. Collect 54 cases of non-syndromic enlarged vestibular aqueduct, and analyze their clinical characteristics after history taking, physical examination, audiometry and imaging examination. Measure the biggest width of midpoint between internal and external of vestibular aqueduct on temporal bone thin-section CT, and analyze the relationship between the pipe width and sides of ear, types of hearing loss and degree of hearing loss through test. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2019.03.017DOI Listing
March 2019
5 Reads

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

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

The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct.

Otol Neurotol 2019 03;40(3):e178-e185

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

Introduction: The aim was to investigate the progress of hearing loss over time in a cohort of pendred syndrome and non-syndromic enlarged vestibular aqueduct (PS/NSEVA) with one or two confirmed pathogenic variations in SLC26A4.

Study Design: Retrospective cohort study.

Subjects And Methods: At our tertiary referral center, a retrospective search of all patients with enlarged vestibular aqueduct, hearing loss and SLC26A4 mutations yielded 103 individuals by March 2017, 96 of whom had records of hearing levels; both an early audiometry and the latest between 3 and 668 months follow-up. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002140DOI Listing
March 2019
1 Read

Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.

Cochlear Implants Int 2019 03 28;20(2):100-103. Epub 2018 Nov 28.

c Department of Otorhinolaryngology, Head & Neck Surgery and Audiology , Copenhagen University Hospital Rigshospitalet/Gentofte Hospital , København , Denmark.

A 10-year-old boy with fluctuating sensorineural hearing loss (SNHL) and biallelic mutations in the SLC26A4 gene and with inner ear anomalies received a cochlear implantation. SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic EVA or classic Pendred syndrome; the latter also associated with thyroid dysfunction. The inner ear malformations in this group of patients have been considered a relative contraindication against cochlear implantation because of the potential per- and postoperative complications such as peroperative cerebrospinal fluid leak or postoperative vestibular symptoms. Read More

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https://www.tandfonline.com/doi/full/10.1080/14670100.2018.1
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http://dx.doi.org/10.1080/14670100.2018.1550849DOI Listing
March 2019
15 Reads

The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome.

AJNR Am J Neuroradiol 2018 12 1;39(12):2345-2349. Epub 2018 Nov 1.

From the Department of Radiology, Texas Children's Hospital, Houston, Texas.

Background And Purpose: Branchio-oto-renal syndrome is an important syndromic cause of hearing loss. Our aim was to determine the test characteristics of the unwound cochlea on temporal bone CT for the diagnosis of branchio-oto-renal syndrome in a cohort of children with hearing loss.

Materials And Methods: Patients were identified retrospectively with a clinical diagnosis of branchio-oto-renal syndrome and CT imaging of the temporal bones. Read More

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http://dx.doi.org/10.3174/ajnr.A5856DOI Listing
December 2018

Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins.

Cell Rep 2018 10;25(5):1281-1291.e4

Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA. Electronic address:

Morphogenesis and mechanoelectrical transduction of the hair cell mechanoreceptor depend on the correct assembly of Usher syndrome (USH) proteins into highly organized macromolecular complexes. Defects in these proteins lead to deafness and vestibular areflexia in USH patients. Mutations in a non-USH protein, glutaredoxin domain-containing cysteine-rich 1 (GRXCR1), cause non-syndromic sensorineural deafness. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183156
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http://dx.doi.org/10.1016/j.celrep.2018.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284068PMC
October 2018
5 Reads

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

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

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

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

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

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

Sensorineural hearing loss and mild cardiac phenotype caused by an mutation.

Hum Genome Var 2018 22;5:23. Epub 2018 Aug 22.

2Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621 Japan.

is a member of the vertebrate gene family of transcriptional activators and plays several roles in both embryonic and inner ear development. The majority of gene mutations are associated with autosomal dominant non-syndromic hearing loss (DFNA10). In addition, some mutations in this gene cause autosomal dominant syndromic hearing loss with dilated cardiomyopathy. Read More

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http://dx.doi.org/10.1038/s41439-018-0023-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105593PMC
August 2018
8 Reads

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

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

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

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

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

[Research progress in imaging of large vestibular aqueduct syndrome].

Authors:

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Apr;32(8):639-642

Large vestibular aqueduct syndrome is one of the common non-syndromic hearing impairment. It is one of the most common inner ear abnormalities that cause hearing loss in children.The main performance is gradual or fluctuant hearing loss, from basic normal to extremely severe. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2018.08.021DOI Listing
April 2018
4 Reads

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

BMC Med Genet 2018 05 8;19(1):73. Epub 2018 May 8.

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

Background: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with autosomal recessive inheritance, besides congenital sensorineural deafness, goiter or thyroid dysfunctions are frequently present. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
Publisher Site
http://dx.doi.org/10.1186/s12881-018-0585-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941635PMC
May 2018
38 Reads

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

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

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

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

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

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

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

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

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

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

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

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

J Med Genet 2018 05 16;55(5):298-306. Epub 2018 Feb 16.

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

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

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

Molecular characterization of autosomal recessive non syndromic hearing loss in selected families from District Mardan, Pakistan.

Pak J Pharm Sci 2018 Jan;31(1):51-56

Department of Bioinformatics, Hazara University, Mansehra, Pakistan.

Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families. Read More

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January 2018
4 Reads

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Connexin hemichannels and cochlear function.

Authors:
Vytas K Verselis

Neurosci Lett 2019 03 14;695:40-45. Epub 2017 Sep 14.

Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, United States. Electronic address:

Connexins play vital roles in hearing, including promoting cochlear development and sustaining auditory function in the mature cochlea. Mutations in connexins expressed in the cochlear epithelium, Cx26 and Cx30, cause sensorineural deafness and in the case of Cx26, is one of the most common causes of non-syndromic, hereditary deafness. Connexins function as gap junction channels and as hemichannels, which mediate intercellular and transmembrane signaling, respectively. Read More

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http://dx.doi.org/10.1016/j.neulet.2017.09.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851822PMC
March 2019
2 Reads

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.

EMBO Rep 2017 11 11;18(11):2015-2029. Epub 2017 Sep 11.

Auditory Systems Physiology Group Department of Otolaryngology University Medical Center Göttingen, Göttingen, Germany

Lipopolysaccharide-responsive beige-like anchor protein (LRBA) belongs to the enigmatic class of BEACH domain-containing proteins, which have been attributed various cellular functions, typically involving intracellular protein and membrane transport processes. Here, we show that LRBA deficiency in mice leads to progressive sensorineural hearing loss. In LRBA knockout mice, inner and outer hair cell stereociliary bundles initially develop normally, but then partially degenerate during the second postnatal week. Read More

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http://dx.doi.org/10.15252/embr.201643689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666617PMC
November 2017
64 Reads

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.

Biochem Biophys Res Commun 2017 11 9;493(1):258-262. Epub 2017 Sep 9.

Department of Otolaryngology Head and Neck Surgery, Xiangya Hosipital, Central South University, Changsha, Hunan, People's Republic of China; Province Key Laboratory of Otolaryngology Critical Disease, Xiangya Hosipital, Central South University, Changsha, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People's Republic of China. Electronic address:

Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Read More

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http://dx.doi.org/10.1016/j.bbrc.2017.09.034DOI Listing
November 2017
11 Reads

mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.

Proc Natl Acad Sci U S A 2017 09 28;114(37):E7766-E7775. Epub 2017 Aug 28.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892;

The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3 inflammasome leads to IL-1β secretion. Gain-of-function mutations of result in abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic syndromes (CAPS). Read More

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http://dx.doi.org/10.1073/pnas.1702946114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604003PMC
September 2017
48 Reads

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

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

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

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

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

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

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

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

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

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

Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt).

Elife 2017 05 23;6. Epub 2017 May 23.

Oregon Hearing Research Center and the Vollum Institute, Oregon Health and Science University, Portland, United States.

Transmembrane O-methyltransferase (/) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that the auditory and vestibular phenotypes are due to a lack of mechanotransduction (MET) in Tomt-deficient hair cells. Read More

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http://dx.doi.org/10.7554/eLife.28474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462536PMC
May 2017
69 Reads

Discovery of (2-aminophenyl)methanol as a new molecular chaperone that rescues the localization of P123S mutant pendrin stably expressed in HEK293 cells.

Bioorg Med Chem 2017 05 14;25(9):2601-2608. Epub 2017 Mar 14.

Laboratory for Chemistry and Life Science, Institute of Innovative Research, Tokyo Institute of Technology, Yokohama 226-8503, Japan. Electronic address:

Pendred syndrome is the most common form of syndromic deafness. It is associated with a mutation in the SLC26A4 gene that encodes pendrin, which is thought to maintain the ion concentration of endolymph in the inner ear most likely by acting as a chloride/bicarbonate transporter. Mutations in the SLC26A4 gene are responsible for sensorineural hearing loss. Read More

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http://dx.doi.org/10.1016/j.bmc.2017.03.024DOI Listing
May 2017
28 Reads

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

BMC Med Genet 2017 03 23;18(1):35. Epub 2017 Mar 23.

Department of Otolaryngology, The People's Hospital of Guangxi Zhuang Autonomous Region, 6 Taoyuan Road, Nanning, 530021, China.

Background: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). Read More

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-017-0400-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364697PMC
March 2017
46 Reads

Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.

Hear Res 2017 05 3;348:87-97. Epub 2017 Mar 3.

Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan; Department of Hearing Implant Sciences, Shinshu University School of Medicine 3-1-1 Asahi, Matsumoto 390-8621, Japan. Electronic address:

Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs. Read More

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http://dx.doi.org/10.1016/j.heares.2017.02.017DOI Listing
May 2017
21 Reads

Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss.

Cell Rep 2017 01;18(1):68-81

Department of Physiology, Keio University School of Medicine, 35 Shinanomachi Shinjyuku-ku, Tokyo 160-8582, Japan. Electronic address:

Hearing impairments are the most common symptom of congenital defects, and they generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic form of hereditary hearing loss, is associated with mutations in the anion exchanger pendrin. Loss of pendrin function as an anion exchanger is thought to be causative, but rodent models do not exhibit progressive deafness. Read More

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http://dx.doi.org/10.1016/j.celrep.2016.12.020DOI Listing
January 2017
27 Reads

SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.

Hum Mol Genet 2017 01;26(2):383-394

Institute of Biomedical Science, Fudan University, Shanghai, 200032, People's Republic of China.

Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with postlingual non-syndromic mid-frequency sensorineural hearing loss. Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in the zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance. Read More

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http://dx.doi.org/10.1093/hmg/ddw394DOI Listing
January 2017
31 Reads

A novel TECTA mutation causes ARNSHL.

Int J Pediatr Otorhinolaryngol 2017 Jan 15;92:88-93. Epub 2016 Nov 15.

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran. Electronic address:

Objective: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL).

Methods: 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in this study. Read More

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http://dx.doi.org/10.1016/j.ijporl.2016.11.010DOI Listing
January 2017
65 Reads

Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.

Neural Plast 2016 14;2016:3018132. Epub 2016 Nov 14.

Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China; Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. In this study, we performed comprehensive genetic screening in a dominant family in which the proband was initially diagnosed with nonsyndromic deafness. Read More

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https://www.hindawi.com/journals/np/2016/3018132/
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http://dx.doi.org/10.1155/2016/3018132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124661PMC
October 2017
34 Reads

In Vitro Models of GJB2-Related Hearing Loss Recapitulate Ca Transients via a Gap Junction Characteristic of Developing Cochlea.

Stem Cell Reports 2016 12 10;7(6):1023-1036. Epub 2016 Nov 10.

Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. Electronic address:

Mutation of the Gap Junction Beta 2 gene (GJB2) encoding connexin 26 (CX26) is the most frequent cause of hereditary deafness worldwide and accounts for up to 50% of non-syndromic sensorineural hearing loss cases in some populations. Therefore, cochlear CX26-gap junction plaque (GJP)-forming cells such as cochlear supporting cells are thought to be the most important therapeutic target for the treatment of hereditary deafness. The differentiation of pluripotent stem cells into cochlear CX26-GJP-forming cells has not been reported. Read More

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http://dx.doi.org/10.1016/j.stemcr.2016.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161531PMC
December 2016
44 Reads

Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).

Clin Genet 2017 Jun 16;91(6):892-901. Epub 2016 Dec 16.

Bioscientia Center for Human Genetics, Ingelheim, Germany.

In about 20% of non-syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We identified two new families with heterozygous truncating DIAPH1 mutations (p. Read More

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http://dx.doi.org/10.1111/cge.12915DOI Listing
June 2017
19 Reads

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Biochimie 2017 Jan 19;132:109-120. Epub 2016 Oct 19.

Dept. of Biomedical Sciences, CRIBI Biotechnology Center, University of Padua, Italy; CNR Institute of Neuroscience, Padua, Italy. Electronic address:

Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic spectrum, including Pendred Syndrome and non-syndromic hearing loss with enlarged vestibular aqueduct (ns-EVA). No experimental structure of pendrin is currently available, making phenotype-genotype correlations difficult as predictions of transmembrane (TM) segments vary in number. Read More

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http://dx.doi.org/10.1016/j.biochi.2016.10.002DOI Listing
January 2017
15 Reads

Genetic association of MYH genes with hereditary hearing loss in Korea.

Gene 2016 Oct 5;591(1):177-182. Epub 2016 Jul 5.

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea. Electronic address:

Background: Myosin is a key protein involved in regulating the shape and motility of cells. The MYH9 and MYH14 genes, which encode non-muscle myosin heavy chain IIA (NMMHC II-A) and IIC (NMMHC II-C), respectively, are expressed in the inner ear. These myosin genes are known to be associated with autosomal dominant non-syndromic hearing loss (ADNSHL); however, genetic studies in patients with ADNSHL in Korea have rarely been reported. Read More

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http://dx.doi.org/10.1016/j.gene.2016.07.011DOI Listing
October 2016
35 Reads

Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications.

Acta Otolaryngol 2016 Oct 31;136(10):1064-8. Epub 2016 May 31.

a Department of Otorhinolaryngology, Head & Neck Surgery, and Audiology , East Danish Center for Cochlear Implantation, Copenhagen University Hospital Rigshospitalet/Gentofte Hospital , Copenhagen , Denmark ;

Objective: To explore specific clinical issues, surgical results, and complications of 80 cochlear implantations (CI) in 55 patients with Pendred syndrome (PS) or non-syndromic enlarged vestibular aqueduct (NSEVA).

Background: Previous studies have focused either on unselected case series or on populations with mixed cochlear malformations. PS/NSEVA accounts for up to 10% of congenital SNHL, rendering this a large group of cochlear implant candidates. Read More

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http://dx.doi.org/10.1080/00016489.2016.1185538DOI Listing
October 2016
39 Reads

Prevention and management of hearing loss in syndromic craniosynostosis: A case series.

Int J Pediatr Otorhinolaryngol 2016 Jun 11;85:95-8. Epub 2016 Apr 11.

Department of Pediatrics, University of Torino, Torino, Italy.

Objective: To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis.

Methods: Eleven children with Apert syndrome (n=4), Saethre-Chotzen syndrome (n=3), Muenke syndrome (n=2), Crouzon syndrome (n=1) and Pfeiffer syndrome type 1 (n=1) were submitted to a complete audiologic evaluation including otoscopy, pure-tone audiometry, tympanometry and acoustic reflex testing, ABR, otoacustic emissions, temporal bone High Resolution CT (HRCT) scan. The main outcome measures were prevalence, type and severity of hearing loss, prevalence of chronic otitis media, correlation with the time of first surgical correction. Read More

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http://dx.doi.org/10.1016/j.ijporl.2016.03.038DOI Listing
June 2016
33 Reads

Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.

Acta Otorhinolaryngol Ital 2016 Jun;36(3):233-8

BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Portugal, * Present address: UCL Ear Institute, London, United Kingdom;

Pendred syndrome (PS) is the second most common type of autosomal recessive syndromic hearing loss (HL). It is characterised by sensorineural HL and goiter with occasional hypothyroidism. These features are generally accompanied by malformations of the inner ear, as enlarged vestibular aqueduct (EVA). Read More

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http://dx.doi.org/10.14639/0392-100X-889DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977012PMC
June 2016
14 Reads

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Hum Mutat 2016 08 6;37(8):812-9. Epub 2016 May 6.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

Although there are nearly 100 different causative genes identified for nonsyndromic hearing loss (NSHL), Sanger sequencing-based DNA diagnostics usually only analyses three, namely, GJB2, SLC26A4, and OTOF. As this is seen as inadequate, there is a need for high-throughput diagnostic methods to detect disease-causing variations, including single-nucleotide variations (SNVs), insertions/deletions (Indels), and copy-number variations (CNVs). In this study, a targeted resequencing panel for hearing loss was developed including 79 genes for NSHL and selected forms of syndromic hearing loss. Read More

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http://dx.doi.org/10.1002/humu.22999DOI Listing
August 2016
167 Reads

[Advances in hereditary hearing loss caused by TMC1 mutations].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2016 Mar;51(3):224-9

Department of Otorhinolaryngology Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.

Hearing loss is the most frequent sensorineural disorder worldwild, among which about 50% are caused by genetic factors. TMC1 is one of the common genes causing hereditary hearing loss. TMC1 mutations can cause pre-lingual profound/severe autosomal recessive (DFNB7/11) and post-lingual progressive autosomal dominant (DFNA36) non-syndromic hearing loss. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1673-0860.2016.03.016DOI Listing
March 2016
11 Reads

Genetics of Nonsyndromic Congenital Hearing Loss.

Scientifica (Cairo) 2016 18;2016:7576064. Epub 2016 Feb 18.

Department of Otorhinolaryngology, Faculty of Medicine, Istanbul Medeniyet University, 34722 Istanbul, Turkey.

Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Read More

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http://dx.doi.org/10.1155/2016/7576064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775805PMC
March 2016
11 Reads