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Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment [PDF]

European Journal of Pediatrics, 2008
Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear families with two or more siblings segregating presumed autosomal recessive hearing loss.
Payman Jamali, Niloofar Bazazzadegan, Hossein Najmabadi   +2 more
exaly   +3 more sources

Mutation analysis of the SLC26A4 gene in three Chinese families

BioScience Trends, 2019
In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A) with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese probands with SLC26A4 singe-allelic mutation and normal hearing (in Families B and C, respectively), the three probands and their parents were clinically and genetically ...
Xueyao Wang, Xiaohua Cheng, Xuelei Zhao
exaly   +3 more sources

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A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome

International Journal of Pediatric Otorhinolaryngology, 2013
To investigate the mutations in the SLC26A4 gene in a Chinese patient with Pendred syndrome.The diagnosis of Pendred syndrome was confirmed by the family history, pure tone audiogram, perchlorate discharge test (PDT), and computed tomography (CT) of the temporal bone.
Chun-Jui Huang, Wei-Lun Chang, Tjin-Shing Jap   +2 more
exaly   +3 more sources

A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations

International Journal of Pediatric Otorhinolaryngology, 2013
The IVS7-2A>G (c.919-2A>G) and p.H723R (c.2168A>G) mutations of SLC26A4 gene are recognized as a risk factor for the non-syndromic hearing loss. To elucidate the variable results, a meta-analysis and systematic review was performed from all case-control studies by pooling data on them.The case-control studies were assessed with a modification of the ...
Yufen Guo, Xiaowen Liu, Wan Du
exaly   +3 more sources

Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan

Metabolism, 2007
Pendred syndrome (PS) is an autosomal recessive disease that is characterized by congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In this study, we characterized the thyroid status and identified mutations in the SLC26A4 gene in Chinese subjects with PS.
Chien-Chung, Lai, Chih-Yang, Chiu, An-Suey, Shiao, Yi-Chu, Tso, Yi-Chi, Wu, Tzong-Yang, Tu, Tjin-Shing, Jap   +6 more
openaire   +2 more sources

An association study of the SLC26A4 gene in children with mental retardation

Neuroscience Letters, 2009
It is generally considered that iodine deficiency is the single most common cause of preventable mental retardation (MR) and brain damage. The SLC26A4 gene is expressed at the apical surface of thyrocytes and its product forms an efficient iodide-trapping mechanism.
Jun, Li, Fuchang, Zhang, Jianjun, Gao, Zhen, Cai, Qian, Zhao, Yi, Xing, Jie, Xu, Yun, Liu, Liyan, Shao, Ronglin, Che, Zhiyun, Wei, Lin, He   +11 more
openaire   +2 more sources

Two missense mutations in SLC26A4 gene: a molecular and functional study

Clinical Genetics, 2010
Ben Rebeh I, Yoshimi N, Hadj‐Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S and Miyazaki H. Two missense mutations in SLC26A4 gene: a molecular and functional study.Mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non‐syndromic hearing loss (HL) (DFNB4) and Pendred syndrome (PS ...
I Ben, Rebeh, N, Yoshimi, H, Hadj-Kacem, S, Yanohco, B, Hammami, M, Mnif, M, Araki, A, Ghorbel, H, Ayadi, S, Masmoudi, H, Miyazaki   +10 more
openaire   +2 more sources

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness

Cell Biochemistry and Biophysics, 2015
Mutations in gap junction proteins encoding beta connexions are believed to be a major cause for congenital hearing loss. The purpose of this study was to do comparative analyses of frequencies of most prominent mutations responsible for congenital deafness.
Yuan, Fang, Maosheng, Gu, Chuanxia, Wang, Feng, Suo, Guangming, Wang, Yujuan, Xia   +5 more
openaire   +2 more sources

Goiter Caused by SLC26A4 Gene Mutation

The Endocrinologist, 2010
Abstract: We report and discuss a case of a young woman with a massive goiter, which was attributed to a rare genetic disorder. We review the history and diagnostic tests including radiology, blood tests, and genetic results. Diagnostic tests revealed a large goiter, dilated vestibular aqueduct, mondini dysplasia, and a positive genetic test for ...
openaire   +1 more source

Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children

International Journal of Pediatric Otorhinolaryngology, 2012
To investigate the mutations of SLC26A4 gene and the relevant phenotype in Chinese sporadic nonsyndromic hearing-impaired children.195 Chinese sporadic nonsyndromic hearing-impaired children were subjected to microarray-based mutation detection for 9 hot spot mutations in four of the most common deafness-related genes (GJB2, SLC26A4, GJB3, and 12s rRNA)
Xiangyang, Hu, Fenghe, Liang, Min, Zhao, Angela, Gong, Emily R, Berry, Yang, Shi, Yanxiao, Wang, Yan, Chen, Aishu, Liu, Chunyan, Qu   +9 more
openaire   +2 more sources