4.7 Review

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

Suzanne E. de Bruijn et al.

Summary: Adult-onset progressive hearing loss is highly heritable and has been identified in 12 families in the Netherlands as an autosomal dominant trait. A 12-nucleotide in-frame deletion in the RIPOR2 gene was found to be a significant cause of this type of hearing loss, affecting protein localization in cochlear hair cells and morphology.

JOURNAL OF MEDICAL GENETICS (2021)

Article Biochemistry & Molecular Biology

Homozygote loss-of-function variants in the humanCOCHgene underlie hearing loss

Nada Danial-Farran et al.

Summary: A new variant of the COCH gene was found to have a loss-of-function effect, resulting in a significant decrease in cochlin translation, which has a dramatic impact on the accuracy of genetic counseling for carriers of LOF variants in COCH.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Article Clinical Neurology

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype

Jeroen J. Smits et al.

Summary: A novel mutation in the COCH gene, c.1312C > T p.(Arg438Cys), was found to be associated with hearing loss and variable vestibular dysfunction in a Dutch family. The onset of hearing loss is typically at 33 years old (range, 18-49 years), primarily affecting higher frequencies with relatively mild progression. Speech perception is well preserved in affected family members compared to other DFNA9 families with different COCH mutations.

OTOLOGY & NEUROTOLOGY (2021)

Review Audiology & Speech-Language Pathology

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice

Dorien Verdoodt et al.

Summary: DFNA9 is a dominant hereditary non-syndromic form of progressive sensorineural hearing loss caused by pathogenic variants in the COCH gene, resulting in inner ear pathology. There are 22 known pathogenic variants in the COCH gene, all expressing slightly different phenotypes. COCH mutations affect the intracellular trafficking of cochlin, leading to the accumulation of intracellular deposits.

HEARING RESEARCH (2021)

Article Medicine, Research & Experimental

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

Erik de Vrieze et al.

Summary: The study showed that AONs directed against the c.151C>T mutation can effectively induce degradation of mutant COCH transcripts, offering a potential treatment modality for DFNA9. However, allele specificity decreased with increasing concentrations of AONs.

MOLECULAR THERAPY-NUCLEIC ACIDS (2021)

Article Genetics & Heredity

Novel loss-of-function mutations inCOCHcause autosomal recessive nonsyndromic hearing loss

Kevin T. Booth et al.

HUMAN GENETICS (2020)

Review Otorhinolaryngology

A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene

Sebastien JanssensdeVarebeke et al.

EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY (2019)

Article Biochemistry & Molecular Biology

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

Sebastien P. F. JanssensdeVarebeke et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2018)

Article Neurosciences

Bayesian quantification of sensory reweighting in a familial bilateral vestibular disorder (DFNA9)

Bart B. G. T. Alberts et al.

JOURNAL OF NEUROPHYSIOLOGY (2018)

Review Otorhinolaryngology

Age-Related Hearing Loss: Unraveling the Pieces

Nathan C. Tu et al.

LARYNGOSCOPE INVESTIGATIVE OTOLARYNGOLOGY (2018)

Article Audiology & Speech-Language Pathology

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9)

Barbara J. Burgess et al.

AUDIOLOGY AND NEURO-OTOLOGY (2016)

Article Otorhinolaryngology

Distinct vestibular phenotypes in DFNA9 families with COCH variants

Bong Jik Kim et al.

EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY (2016)

Article Genetics & Heredity

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Christina M. Sloan-Heggen et al.

HUMAN GENETICS (2016)

Review Health Care Sciences & Services

Information bias in health research: definition, pitfalls, and adjustment methods

Alaa Althubaiti

JOURNAL OF MULTIDISCIPLINARY HEALTHCARE (2016)

Article Otorhinolaryngology

Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations

Keita Tsukada et al.

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2015)

Article Medicine, Research & Experimental

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Qinjun Wei et al.

JOURNAL OF TRANSLATIONAL MEDICINE (2014)

Article Clinical Neurology

Focal Sclerosis of Semicircular Canals With Severe DFNA9 Hearing Impairment Caused by a P51S COCH-Mutation

Sebastien Pierre Janssens de Varebeke et al.

OTOLOGY & NEUROTOLOGY (2014)

Article Otorhinolaryngology

Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus

Emily Gallant et al.

AMERICAN JOURNAL OF OTOLARYNGOLOGY (2013)

Article Genetics & Heredity

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y

J. Gao et al.

CLINICAL GENETICS (2013)

Article Audiology & Speech-Language Pathology

Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis

A. M. M. Oonk et al.

HEARING RESEARCH (2013)

Article Otorhinolaryngology

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family

Dong-Ye Chen et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2013)

Article Biochemical Research Methods

The transience of transient overexpression

Toby J. Gibson et al.

NATURE METHODS (2013)

Article Multidisciplinary Sciences

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

Byung Yoon Choi et al.

PLOS ONE (2013)

Article Otorhinolaryngology

Etiology of unilateral hearing loss in a national hereditary deafness repository

Kelley M. Dodson et al.

AMERICAN JOURNAL OF OTOLARYNGOLOGY (2012)

Article Otorhinolaryngology

Phenotype Analysis of an Australian DFNA9 Family With the I109N COCH Mutation

Robert J. Pauw et al.

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2011)

Letter Genetics & Heredity

The Trp117Arg mutation of the COCH gene causes deafness in Koreans

J-I Baek et al.

CLINICAL GENETICS (2010)

Article Biochemistry & Molecular Biology

Role of Protein Misfolding in DFNA9 Hearing Loss

Jianhua Yao et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Medicine, Research & Experimental

A Novel Mutation in COCH-Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Michael S. Hildebrand et al.

LARYNGOSCOPE (2010)

Letter Genetics & Heredity

Mutation in the COCH Gene Is Associated With Superior Semicircular Canal Dehiscence

Michael S. Hildebrand et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Medicine, General & Internal

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

David Moher et al.

ANNALS OF INTERNAL MEDICINE (2009)

Article Otorhinolaryngology

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3

Robert J. Pauw et al.

ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2008)

Letter Genetics & Heredity

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families

H. J. Yuan et al.

CLINICAL GENETICS (2008)

Article Ophthalmology

Vertical corneal striae in families with authosomal dominant hearing loss:: DFNA9/COCH

Anne M. L. C. Bischoff et al.

AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)

Article Otorhinolaryngology

Phenotype description of a novel DFNA9/COCH mutation, I109T

Robert J. Pauw et al.

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2007)

Article Audiology & Speech-Language Pathology

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

Robert J. Pauw et al.

AUDIOLOGY AND NEURO-OTOLOGY (2007)

Letter Genetics & Heredity

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

Rob W. J. Collin et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Clinical Neurology

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

MH Kemperman et al.

OTOLOGY & NEUROTOLOGY (2005)

Article Clinical Neurology

COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases

MR Boulassel et al.

OTOLOGY & NEUROTOLOGY (2001)

Article Otorhinolaryngology

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH

SJH Bom et al.

ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2001)

Article Clinical Neurology

Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9)

WIM Verhagen et al.

ARCHIVES OF NEUROLOGY (2000)