Results 41 to 50 of about 1,391 (157)

The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss

Otolaryngology–Head and Neck Surgery, Volume 172, Issue 6, Page 2082-2089, June 2025.
Abstract Objective To assess the added benefit of newborn genetic screening for GJB2 and SLC26A4 variants in conjunction with newborn hearing screening. Study Design Retrospective cohort study. Methods Children with known variants of GJB2 and SLC26A4 were identified from 485 children with hearing loss who underwent testing with Next Generation ...
Emily R Wener, Sharon L Cushing, Blake C Papsin, Dimitrios J. Stavropoulos, Roberto Mendoza‐Londono, Nada Quercia, Karen A. Gordon   +6 more
wiley   +1 more source

Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran [PDF]

Iranian Journal of Public Health, 2006
Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 (connexin 26) gene located on “DFNB1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (ARNSHL) in some populations.
M Hashemzadeh Chaleshtori, M Montazer Zohour, L Hoghooghi Rad, H Pour-Jafari, DD Farhud, M Dolati, K Safa Chaleshtori, R Sasanfar, A Hosseinipour, L Andonian, A Tolouei, M Ghadami, MA Patton   +12 more
doaj   +2 more sources

Hearing loss and pathological changes of cochlea in a mouse model carrying compound heterozygous variants in the Gjb2 non‐coding region

Eye &ENT Research, Volume 2, Issue 1, Page 43-52, March 2025.
Abstract Background GJB2 gene variants are the most important cause of sensorineural hearing loss. A large number of clinical studies have focused on coding region variants, and a significant proportion of patients with single coding region variants have unexplained clinical phenotypes.
Xinyu Shi, Xiaozhou Liu, Zhengdong Zhao, Yanjun Zong, Weijia Kong, Yu Sun   +5 more
wiley   +1 more source

"Frequency of A Very Rare 35delG Mutation in Two Ethnic Groups of Iranian Populations " [PDF]

Iranian Journal of Public Health, 2004
The 35delG mutation in the Connexin 26 gene (Cx26), at the DNFB1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (ARNSHL).
R Sasanfar, A Tolouei, A Hoseinipour, DD Farhud, M Dolati, L Hoghooghi Rad, M Montazer Zohour, M Ghadami, H Pour-Jafari, M Hashemzadeh Chaleshtori   +9 more
doaj   +1 more source

Saliva Sample‐Based Non‐Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
We established a rapid saliva‐based non‐invasive screening model for carriers of SMA, hearing loss, and thalassemia among women from South Zhejiang and provided prenatal diagnosis for high‐risk families. The results not only clarified the local carrier frequency of these diseases but also confirmed the feasibility of the carrier screening model ...
Chenyang Xu, Yanbao Xiang, Xiaoling Lin, Qifan Ma, Yunzhi Xu, Huanzheng Li, Shaohua Tang, Xueqin Xu   +7 more
wiley   +1 more source

The Prevalence of GJB2 Mutation (35delG) in Patients With Non-syndromic Hearing Loss From Northern Iranian Population [PDF]

Caspian Journal of Neurological Sciences
Background: Biallelic mutations in GJB2 are responsible for over half of all autosomal recessive non-syndromic hearing loss (ARNSHL) cases, establishing it as the most critical locus for this disorder globally.
Shadman Nemati, Alireza Sharafshah, Ali Albonaim, Masoumeh Khani, Ali Faghih Habibi, Samin Abed, Parvaneh Keshavarz   +6 more
doaj  

Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
Our study highlights that SLC26A4 is the second most prevalent cause of hearing loss, following GJB2. This finding underscores the significance of understanding the genetic underpinnings of hearing loss for early diagnosis and the implementation of appropriate screening programs for different ethnic groups in Iran.
Marzieh Mohseni, Farzane Zare Ashrafi, Ehsan Abbaspour Rodbaneh, Haleh Mokabber, Maryam Vafaei, Ramiz Nobakht, Fatemeh Keshavarzi, Sanaz Arzhangi, Sara Arish, Zahra Nematollahi Azar, Kimia Kahrizi, Hossein Najmabadi, Behzad Davarnia   +12 more
wiley   +1 more source

Geographic distribution of 35delG carrier rate.

, 2013
The spatial frequency map was obtained by plotting the incidence of the 35delG allele in 4346 individuals representing 20 populations including 6 sub-populations from Belarus together with others taken from the literature [12], [13].
Elena Merkulava (324195), Marina Siniauskaya (324196), Oleg Davydenko (324203), Nina Danilenko (324194), Alena Kushniarevich (324200), Olga Olejnik (324197), Andrey Shymkevich (324202), Anastasia Levaya-Smaliak (324198)   +7 more
core   +1 more source

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). [PDF]

PLoS ONE, 2016
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene.
Nikolay A Barashkov, Vera G Pshennikova, Olga L Posukh, Fedor M Teryutin, Aisen V Solovyev, Leonid A Klarov, Georgii P Romanov, Nyurgun N Gotovtsev, Andrey A Kozhevnikov, Elena V Kirillina, Oksana G Sidorova, Lena M Vasilyevа, Elvira E Fedotova, Igor V Morozov, Alexander A Bondar, Natalya A Solovyevа, Sardana K Kononova, Adyum M Rafailov, Nikolay N Sazonov, Anatoliy N Alekseev, Mikhail I Tomsky, Lilya U Dzhemileva, Elza K Khusnutdinova, Sardana A Fedorova   +23 more
doaj   +1 more source

AAV‐mediated Gene Therapy for Hereditary Deafness: Progress and Perspectives

Advanced Science, Volume 11, Issue 47, December 18, 2024.
Gene therapy has successfully restored hearing function in hereditary autosomal recessive deafness 9 (DFNB9) caused by the OTOFERLIN (OTOF) mutation, providing a translational paradigm for gene therapy in other forms of genetic deafness. In this work, a systematic overview of the current state of gene therapy for hereditary deafness, with particular ...
Liyan Zhang, Fangzhi Tan, Jieyu Qi, Yicheng Lu, Xiaohan Wang, Xuehan Yang, Xiangyan Chen, Xinru Zhang, Jinyi Fan, Yinyi Zhou, Li Peng, Nianci Li, Lei Xu, Shiming Yang, Renjie Chai   +14 more
wiley   +1 more source