Results 31 to 40 of about 139 (86)

Mutation in second exon of myo15a gene cause of nonsyndromic hearing loss and its association in the Arab population in Iran [PDF]

, 2016
Hearing loss is a genetically and clinically heterogeneous defect and more than 140 loci and 65 genes have been identified to cause autosomal recessive non-syndromic hearing loss (ARNSHL).
Asgharzadeh, Samira., Tabatabaiefar, Mohammad Amin., Reisi, Somayeh, Modarressi, Mohammad Hossein., Hashemzadeh-Chaleshtori, Morteza.   +4 more
core   +2 more sources

Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant

, 2021
Autosomal recessive nonsyndromic hearing loss 3 (DFNB3) mainly leads to congenital and severe-to-profound hearing impairment, which is caused by variants in MYO15A.
나지나, 정진세, 지헌영, 최재영   +3 more
core   +1 more source

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing

Molecular Genetics &Genomic Medicine, Volume 7, Issue 8, August 2019., 2019
This article identifies five novel mutations in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing. Abstract Background Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human defects. Autosomal recessive inheritance accounts for a huge percentage of familial cases.
Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan   +6 more
wiley   +1 more source

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

Disease Markers, Volume 2018, Issue 1, 2018., 2018
We aim to identify the mutations of deafness genes using massively parallel DNA sequencing in the 12 Uyghur families. SNPscan method was used to screen against the 124 sites in the common deafness genes in probands. Subjects with SNPscan negativity were subject to massively parallel DNA sequencing for the sequencing of 97 genes known to be responsible ...
Yu Chen, Yu Lu, Pilidong Kuyaxi, Jing Cheng, Juan Zhao, Qi Zhao, Patiguli Musha, Hua Zhang, Huijun Yuan, Silvia Angeletti   +9 more
wiley   +1 more source

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Neural Plasticity, Volume 2018, Issue 1, 2018., 2018
Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2, SLC26A4, or MtDNA12SrRNA variants. Three variants, c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs ∗22), and c.9690+1G>A,
Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang, Hai Huang   +6 more
wiley   +1 more source

Different Contribution of Missense and Loss‐of‐Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease

MedComm, Volume 6, Issue 10, October 2025.
This study examines the genetic basis of sporadic (SMD) and familial Meniere disease (FMD) by comparing rare protein‐coding variants using exome sequencing and gene burden analysis. FMD patients had a higher accumulation of missense and LoF variants, especially in genes linked to auditory and vestibular function.
Alberto M. Parra‐Perez, Alvaro Gallego‐Martinez, Alba Escalera‐Balsera, Paula Robles‐Bolivar, Patricia Perez‐Carpena, Jose A. Lopez‐Escamez   +5 more
wiley   +1 more source

Genetics of Nonsyndromic Congenital Hearing Loss

Scientifica, Volume 2016, Issue 1, 2016., 2016
Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations.
Oguz Kadir Egilmez, M. Tayyar Kalcioglu, Zhijun Duan   +2 more
wiley   +1 more source

A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss

Molecular Genetics &Genomic Medicine, Volume 12, Issue 12, December 2024.
Two iPSCs were generated separately from the proband and a mutation‐negative family member, and those were then induced to hair cell‐like cells to examine the effects of the MYO15A mutation (c.2482C>T) on the morphology and function of those cells. Results demonstrate that the novel mutation may cause inner ear hair cell dysfunction and audiological ...
Yanli Wang, Zengping Liu, Yong Li, Zhipeng Nie, Baicheng Xu, Yiming Zhu, Shihong Duan, Xingjian Chen, Huan Tan, Jiong Dang, Minxin Guan, Yufen Guo   +11 more
wiley   +1 more source

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants

Molecular Genetics &Genomic Medicine, Volume 12, Issue 6, June 2024.
We detected and analysed 362 Chinese non‐syndromic HL patients, of whom 102 patients were assigned a molecular diagnosis with 52 different variants in 22 deafness genes. Twenty of the variants in 15 deafness genes were novel. Our study expanded the spectrum of deafness gene variation.
Panpan Ma, Bingbo Zhou, Qichao Kang, Xue Chen, Xinyuan Tian, Ling Hui, Shengju Hao, Huiyan Wu, Chuan Zhang   +8 more
wiley   +1 more source

Study of the association of DFNB3 locus with autosomal recessive non-syndromic hearing loss in iranian deaf population using genetic linkage analysis [PDF]

, 2014
Background: Hearing loss is a common sensory disorder that typically illustrates genetic heterogeneity in human populations. The incidence of congenital hearing loss is estimated at 1 in 500 births of which approximately 70 of cases are attributed to ...
Sanati, Mohammad Hossein., Shavarzi, Afsaneh., Reiisi, Somayeh., PourJafari, Hamid Reza., Tabatabaiefar, Mohammad Amin., Ataiee, Mitra., Minuchehr, Zarrin., Hashemzadeh-Chaleshtori, Morteza., kasiri, mahboobeh.   +8 more
core   +1 more source