A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family [PDF]
BMC Medical Genomics, 2022 Background The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder.
Ting Wu +9 more
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Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts [PDF]
BMC Medical Genomics, 2022 Background To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed.
Xiaohui He +5 more
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Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene [PDF]
Scientific Reports, 2021 Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing impairment. Several transgenic mice with different Slc26a4 variants have been generated. However, none have recapitulated the auditory phenotypes in humans.
Chin-Ju Hu +12 more
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Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene. [PDF]
PLoS ONE, 2020 Single Nucleotide Polymorphisms (SNPs) are the most common candidate mutations in human beings that play a vital role in the genetic basis of certain diseases.
Mirza Jawad Ul Hasnain +8 more
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Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay [PDF]
BMC Medical GenomicsBackground The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao +8 more
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A novel genotyping technique for discriminating LVAS-associated high-frequency variants in SLC26A4 gene [PDF]
AMB Express, 2020 An increasing number of biological and epidemiological evidence suggests that c.919-2A > G and c.2168A > G variants of solute carrier family 26, member 4 (SLC26A4) gene play a critical role in the development of large vestibular aqueduct syndrome (LVAS).
Chen Zhou +4 more
doaj +2 more sources
Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review [PDF]
Frontiers in Genetics, 2023 Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types.
Yunhua Huang +13 more
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Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 being the most ...
Yongan Tian +22 more
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Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism [PDF]
Archives of Endocrinology and Metabolism, 2016 Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin.
Chunyun Fu +13 more
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Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome [PDF]
Molecular MedicineBackground Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population,
Marek Sklenar +9 more
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