Cargando…

A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

BACKGROUND: Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family. CASE PRESENTATION: The proband with profound hearing loss had received audiomet...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ma, Di, Shen, Shanshan, Gao, Hui, Guo, Hui, Lin, Yumei, Hu, Yuhua, Zhang, Ruanzhang, Wang, Shayan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090657/ https://www.ncbi.nlm.nih.gov/pubmed/30068307 http://dx.doi.org/10.1186/s12881-018-0657-y

Ejemplares similares

Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations
por: Akbariazar, Elinaz, et al.
Publicado: (2019)

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families
por: Asaad, Maria, et al.
Publicado: (2023)

The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis
por: Farjami, Mahsa, et al.
Publicado: (2020)

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

Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
por: Fu, Ying, et al.
Publicado: (2022)

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)

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
por: Khalil, Athar, et al.
Publicado: (2020)

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)

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees
por: Khatami, Somayeh, et al.
Publicado: (2020)

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

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)

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing
por: Bai, Xuejing, et al.
Publicado: (2019)

Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families
por: Mahmood, Umair, et al.
Publicado: (2021)

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

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

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

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

Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature
por: Xia, Cai-Feng, et al.
Publicado: (2023)

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

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss
por: Dantas, Vitor G. L., et al.
Publicado: (2018)

Erratum to “A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss”
por: Zhang, Chi, et al.
Publicado: (2017)

Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear
por: Li, Peipei, et al.
Publicado: (2018)

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss
por: Pagnamenta, Alistair T, et al.
Publicado: (2012)

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family
por: Reiisi, Somayeh, et al.
Publicado: (2016)

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients
por: Alkowari, Moza, et al.
Publicado: (2022)

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss
por: Yang, Ziying, et al.
Publicado: (2023)

Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation
por: Wang, Xiong, et al.
Publicado: (2018)

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)

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss
por: Oka, Shin-ichiro, et al.
Publicado: (2020)

Identification of a Nonsense Mutation in CWC15 Associated with Decreased Reproductive Efficiency in Jersey Cattle
por: Sonstegard, Tad S., et al.
Publicado: (2013)

Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2014)

A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report
por: Mohamed, Walaa Kamal Eldin, et al.
Publicado: (2019)

Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome
por: Cho, Hee Yeon, et al.
Publicado: (2013)

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations
por: Samanta, Ananya, et al.
Publicado: (2019)

A Mutation in Myo15 Leads to Usher-Like Symptoms in LEW/Ztm-ci2 Rats
por: Held, Nadine, et al.
Publicado: (2011)

Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon
por: Wonkam, Ambroise, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_40893fcst5adctmjf9dubo57bk