Cargando…

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss

Congenital deafness is one of the most common causes of disability in humans, and more than half of cases are caused by genetic factors. Mutations of the MYO15A gene are the third most common cause of hereditary hearing loss. Using next-generation sequencing combined with auditory tests, two novel c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Xiao-Hui, Xie, Le, Chen, Sen, Xu, Kai, Bai, Xue, Jin, Yuan, Qiu, Yue, Liu, Xiao-Zhou, Sun, Yu, Kong, Wei-Jia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140830/ https://www.ncbi.nlm.nih.gov/pubmed/34093702 http://dx.doi.org/10.1155/2021/9957712

Ejemplares similares

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

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)

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

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)

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)

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
por: Woo, Hae-Mi, et al.
Publicado: (2013)

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

Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
por: Wu, Xia, et al.
Publicado: (2018)

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)

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2013)

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)

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family
por: Jin, Yuan, et al.
Publicado: (2022)

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

Corrigendum to “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)

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2015)

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 compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
por: Xiang, Yanbao, et al.
Publicado: (2022)

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

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

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
por: Kabahuma, Rosemary Ida, 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)

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

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)

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)

Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family
por: Wang, Longhao, et al.
Publicado: (2020)

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

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)

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

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss
por: Wang, Mingming, et al.
Publicado: (2020)

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 variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss
por: Huang, Yanxia, et al.
Publicado: (2023)

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)

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

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

Cannot write session to /tmp/vufind_sessions/sess_1opghkpt4mmhdf6hlieioh6p7l