Cargando…

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

BACKGROUND: The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods. Whole-exome sequencing has recently been introduced as an alternative approach to identifying causative mutations in Mendelian disorders. METHODS: To identify the hidde...

Descripción completa

Detalles Bibliográficos
Autores principales:	Woo, Hae-Mi, Park, Hong-Joon, Baek, Jeong-In, Park, Mi-Hyun, Kim, Un-Kyung, Sagong, Borum, Koo, Soo Kyung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727941/ https://www.ncbi.nlm.nih.gov/pubmed/23865914 http://dx.doi.org/10.1186/1471-2350-14-72

Ejemplares similares

A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
por: Sagong, Borum, et al.
Publicado: (2017)

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
por: Zhang, Fengguo, et al.
Publicado: (2018)

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
por: Xia, Hong, et al.
Publicado: (2015)

Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss
por: Booth, Kevin T., et al.
Publicado: (2021)

Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans
por: Ryu, Nari, et al.
Publicado: (2016)

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2012)

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss
por: Wang, Xiao-Hui, et al.
Publicado: (2021)

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2013)

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
por: Xu, Pengcheng, et al.
Publicado: (2020)

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
por: Gao, Xue, et al.
Publicado: (2013)

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
por: Hu, Jiongjiong, et al.
Publicado: (2016)

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
por: Woo, Hae-Mi, et al.
Publicado: (2014)

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
por: Atik, Tahir, et al.
Publicado: (2015)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
por: Thongpradit, Supranee, et al.
Publicado: (2020)

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene
por: Lee, Kwanghyuk, et al.
Publicado: (2011)

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2019)

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)

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
por: Fardaei, Majid, et al.
Publicado: (2015)

A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment
por: El Hakam Kamareddin, Carole, et al.
Publicado: (2015)

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2021)

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
por: Yang, Jin-Yuan, et al.
Publicado: (2022)

Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
por: Kang, Minjin, et al.
Publicado: (2023)

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
por: Zhang, Jing, et al.
Publicado: (2019)

Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population
por: Ebrahimkhani, Somayeh, et al.
Publicado: (2021)

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
por: Bharadwaj, Thashi, et al.
Publicado: (2021)

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss
por: Wang, Luming, et al.
Publicado: (2022)

Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss
por: Grillo, Ana Paula, et al.
Publicado: (2015)

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
por: Zardadi, Safoura, et al.
Publicado: (2020)

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss
por: Talebi, Farah, et al.
Publicado: (2018)

A Rapid Method for Simultaneous Screening of Multi-Gene Mutations Associated with Hearing Loss in the Korean Population
por: Sagong, Borum, et al.
Publicado: (2013)

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
por: Lee, Kwanghyuk, et al.
Publicado: (2011)

PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
por: Redfield, Shelby E., et al.
Publicado: (2023)

Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss
por: Kim, Min-A, et al.
Publicado: (2014)

Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran
por: ASGHARZADE, Samira, et al.
Publicado: (2017)

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
por: Bakhchane, Amina, et al.
Publicado: (2017)

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability
por: Muthusamy, Babylakshmi, et al.
Publicado: (2020)

A novel mutation in 3’UTR of GJB2 gene in autosomal recessive nonsyndromic sensorineural hearing loss in South Indian population
por: sebastian, Maria, et al.
Publicado: (2014)

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder
por: Xia, Hong, et al.
Publicado: (2019)

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families
por: Bai, Xiaohui, et al.
Publicado: (2020)

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
por: Ansar, Muhammad, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_s5dsnqugbh216sn3h5oe2pbamv