Cargando…

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non-syndromic hearing loss

Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non-syndromic progressive hearing impairme...

Descripción completa

Detalles Bibliográficos
Autores principales:	TAN, MINXING, SHEN, XIAOFEI, YAO, JUN, WEI, QINJUN, LU, YAJIE, CAO, XIN, XING, GUANGQIAN
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2014
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214331/ https://www.ncbi.nlm.nih.gov/pubmed/25242383 http://dx.doi.org/10.3892/ijmm.2014.1939

Ejemplares similares

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss
por: Liu, Fei, et al.
Publicado: (2015)

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss
por: Kim, Ye-Ri, et al.
Publicado: (2015)

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
por: Varga, Lukas, et al.
Publicado: (2019)

Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
por: Zhang, Weixun, et al.
Publicado: (2022)

Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China
por: Wei, Qinjun, et al.
Publicado: (2013)

A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family
por: WEI, QINJUN, et al.
Publicado: (2014)

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
por: Xing, Guangqian, et al.
Publicado: (2017)

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss
por: Zhang, Dejun, et al.
Publicado: (2022)

Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation
por: Abe, Satoko, et al.
Publicado: (2018)

Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China()
por: Lu, Yajie, et al.
Publicado: (2011)

Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling
por: Shi, Hairong, et al.
Publicado: (2022)

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)

RNA Interference Prevents Autosomal-Dominant Hearing Loss
por: Shibata, Seiji B., et al.
Publicado: (2016)

Prevalence and clinical features of hearing loss caused by EYA4 variants
por: Shinagawa, Jun, et al.
Publicado: (2020)

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype
por: Li, Jinying, et al.
Publicado: (2021)

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss
por: Wei, Qinjun, et al.
Publicado: (2014)

Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
por: Mi, Yanfang, et al.
Publicado: (2020)

A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family
por: Doll, Julia, et al.
Publicado: (2020)

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
por: Huang, Lijia, et al.
Publicado: (2012)

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss
por: Lin, Yin-Hung, et al.
Publicado: (2017)

A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities
por: Bai, Dan, et al.
Publicado: (2021)

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
por: Yasukawa, Rika, et al.
Publicado: (2019)

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

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
por: Hogewind, Barend F.T., et al.
Publicado: (2010)

A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss
por: Su, Yu, et al.
Publicado: (2014)

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

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss
por: Wang, Mingming, 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)

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
por: Weisschuh, Nicole, et al.
Publicado: (2012)

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
por: Huang, Lijia, et al.
Publicado: (2022)

A systematic review and meta-analysis of 235delC mutation of GJB2 gene
por: Yao, Jun, et al.
Publicado: (2012)

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2016)

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents
por: Gao, Xue, et al.
Publicado: (2017)

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family
por: Bai, Haihua, et al.
Publicado: (2014)

A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
por: Zhang, Chi, et al.
Publicado: (2016)

Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss
por: Gao, Xue, et al.
Publicado: (2018)

Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract
por: Asghari, Mahla, et al.
Publicado: (2023)

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome
por: Wang, Panfeng, et al.
Publicado: (2023)

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene
por: Oziębło, Dominika, et al.
Publicado: (2019)

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
por: Nishio, Shin-ya, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_vfigqejm7lsp5vfil9vbs7k31j