Results 31 to 40 of about 675 (134)

A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A. [PDF]

Mol Genet Genomic Med
A Chinese family with a KCNQ4 (c.701A>G; p.His234Arg) missense variation was identified. The hearing loss was characterized by postlingual deafness, with high‐frequency hearing loss. This finding provides evidence for otolaryngologists to counsel patients, facilitating clinical decisions related to reproductive planning and childcare.
Gong GQ, Huang CC, Jin HY, Zhang Z, Yang CL, Yang G, Lu HF, Yang YB, Cao JY, Chen RY, Li-Wang, Ji YM, Sun Y, Lu Y.   +13 more
europepmc   +2 more sources

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

Molecular Genetics &Genomic Medicine, Volume 9, Issue 4, April 2021., 2021
CABP2‐related autosomal recessive non‐syndromic hearing loss have only been reported in a few families worldwide. We report the first Northern European individual with CABP2‐related hearing loss who was found homozygous for the splice site variant CABP2: c. 637+1G>T. No consanguinty in the family was reported, however loss of heterozygosity in a 3.2 Mb
Inger Norlyk Sheyanth, Allan Thomas Højland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen   +5 more
wiley   +1 more source

Audiological features in Serbian patients with hearing impairment identified with c.35delG in the GJB2 gene [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2021
Introduction/Objective. Hearing impairment is the most common sensorineural disorder with an incidence of 1/700–1000 newborns. Variants in the GJB2 gene are the major cause of autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL).
Dobrić Bojana, Radivojević Danijela, Ječmenica Jovana, Neocleous Vassos, Fanis Pavlos, Phylactou Leonidas A., Đurišić Marina   +6 more
doaj   +1 more source

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

Neural Plasticity, Volume 2021, Issue 1, 2021., 2021
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 compound heterozygous variants c.2802_2812del/c.5681T>C
Xiao-Hui Wang, Le Xie, Sen Chen, Kai Xu, Xue Bai, Yuan Jin, Yue Qiu, Xiao-Zhou Liu, Yu Sun, Wei-Jia Kong, Geng lin Li   +10 more
wiley   +1 more source

Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.

PLoS ONE, 2021
Hearing impairment (HI) is a highly heterogeneous genetic disorder and is classified into nonsyndromic (without any other clinical manifestations) and syndromic (if combined with other clinical presentations) forms.
Nabila Kausar, Asma Haque, Muhammad Shareef Masoud, Nazia Nahid, Usman Ali Ashfaq, Ali Muhammad Waryah, Rashid Bhatti, Muhammad Qasim   +7 more
doaj   +2 more sources

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

BMC Medical Genetics, 2020
Background Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share of HL cases.
Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar   +8 more
doaj   +1 more source

Genetics of hearing loss in africans: use of next generation sequencing is the best way forward

The Pan African Medical Journal, 2015
Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due toextensively poor health care systems.
Kamogelo Lebeko, Jason Bosch, Jean Jacques Nzeale Noubiap, Collet Dandara, Ambroise Wonkam   +4 more
doaj   +1 more source

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. [PDF]

PLoS ONE, 2014
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness ...
Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar   +15 more
doaj   +1 more source

The worldwide frequency of MYO15A gene mutations in patients with autosomal recessive non-syndromic hearing loss: A meta‐analysis [PDF]

Iranian Journal of Basic Medical Sciences, 2020
MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL).
Mahsa Farjami, Reza Asadi, Fahimeh Afzal Javan, Malihe Alimardani, Saeed Eslami, Sima Mansoori Derakhshan, Atieh Eslahi, Majid Mojarad   +7 more
doaj   +1 more source

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family. [PDF]

PLoS ONE, 2015
Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL).
Xue Gao, Yu Su, Yu-Lan Chen, Ming-Yu Han, Yong-Yi Yuan, Jin-Cao Xu, Feng Xin, Mei-Guang Zhang, Sha-Sha Huang, Guo-Jian Wang, Dong-Yang Kang, Li-Ping Guan, Jian-Guo Zhang, Pu Dai   +13 more
doaj   +1 more source