Cargando…

Genetics of hearing loss: focus on DFNA2

The purpose of this review is to assess the current literature on deafness nonsyndromic autosomal dominant 2 (DFNA2) hearing loss and the mutations linked to this disorder. Hearing impairment, particularly nonsyndromic hearing loss, affects multiple families across the world. After the identificatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dominguez, Laura M, Dodson, Kelley M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2012
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681197/ https://www.ncbi.nlm.nih.gov/pubmed/23776385 http://dx.doi.org/10.2147/TACG.S35525

Ejemplares similares

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review
por: Aldè, Mirko, et al.
Publicado: (2023)

Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss
por: Wang, Hongyang, et al.
Publicado: (2018)

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
por: Morín, Matias, et al.
Publicado: (2020)

Role of DFNA5 in hearing loss and cancer – a comment on Rakusic et al
por: Croes, Lieselot, et al.
Publicado: (2015)

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants
por: Lachgar-Ruiz, María, et al.
Publicado: (2023)

Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss
por: Kojima, Takashi, et al.
Publicado: (2021)

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
por: Eisenberger, Tobias, et al.
Publicado: (2018)

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37
por: Booth, Kevin T., et al.
Publicado: (2018)

Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study
por: Zhang, Xuhui, et al.
Publicado: (2015)

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family
por: Lachgar, María, et al.
Publicado: (2021)

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
por: Thoenes, Michaela, et al.
Publicado: (2015)

Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)
por: Honda, Tomoko, et al.
Publicado: (2022)

Confirmation of GRHL2 as the gene for the DFNA28 locus
por: Vona, Barbara, et al.
Publicado: (2013)

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
por: Huang, Aiping, et al.
Publicado: (2015)

Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family
por: Chen, Xi, et al.
Publicado: (2020)

New Insights into the Identity of the DFNA58 Gene
por: do Nascimento, Larissa Reis, et al.
Publicado: (2022)

Unraveling haplotype errors in the DFNA33 locus
por: Vona, Barbara, et al.
Publicado: (2023)

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family
por: Zhao, Yali, et al.
Publicado: (2014)

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
por: Dantas, Vitor G.L., et al.
Publicado: (2014)

Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family
por: Wang, Honghan, et al.
Publicado: (2015)

DFNA5 regulates immune cells infiltration and exhaustion
por: Hu, Jian, et al.
Publicado: (2022)

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family
por: Li, Qiong, et al.
Publicado: (2022)

Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment
por: Li, Zhengyue, et al.
Publicado: (2013)

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9
por: de Vrieze, Erik, et al.
Publicado: (2021)

Genetics of Nonsyndromic Congenital Hearing Loss
por: Egilmez, Oguz Kadir, et al.
Publicado: (2016)

DFNA5 promoter methylation a marker for breast tumorigenesis
por: Croes, Lieselot, et al.
Publicado: (2017)

Accelerated Cognitive Decline Associated With Hearing Loss and Bilateral Vestibulopathy: Insights From a Prospective Cross-Sectional Study Using the Repeatable Battery for the Assessment of Neuropsychological Status Adjusted for the Hearing Impaired in the DFNA9 Population
por: Gommeren, Hanne, et al.
Publicado: (2022)

Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review
por: De Belder, Jonas, et al.
Publicado: (2018)

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
por: Kim, Hee-Jin, et al.
Publicado: (2013)

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
por: Pater, Justin A., et al.
Publicado: (2022)

Advances in genetic hearing loss: CIB2 gene
por: Jacoszek, Agnieszka, et al.
Publicado: (2016)

Genetic Hearing Loss and Gene Therapy
por: Carpena, Nathanial T, et al.
Publicado: (2018)

A novel dominant GJB2 (DFNA3) mutation in a Chinese family
por: Wang, Hongyang, et al.
Publicado: (2017)

Hearing loss in Africa: current genetic profile
por: Adadey, Samuel Mawuli, et al.
Publicado: (2021)

Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients
por: Ihtijarevic, Berina, et al.
Publicado: (2020)

The Importance of Early Genetic Diagnostics of Hearing Loss in Children
por: Božanić Urbančič, Nina, et al.
Publicado: (2020)

Identification and Functional Study of a New Missense Mutation in the Motor Head Domain of Myosin VIIA in a Family with Autosomal Dominant Hearing Impairment (DFNA11)
por: Sang, Qing, et al.
Publicado: (2013)

Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study)
por: Gommeren, Hanne, et al.
Publicado: (2023)

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
por: Robijn, Sybren M. M., et al.
Publicado: (2022)

Diagnosis routine and approach in genetic sensorineural hearing loss
por: Alves, Fatima Regina Abreu, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_op16tla3038gg8ktlpnrkdch0j