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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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects [PDF]
BMC Medical Genetics, 2018 Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be ...
Renata Watanabe Nonose +5 more
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Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss. [PDF]
Int J Mol Sci, 2022 Screening pathogenic variants in the SLC26A4 gene is an important part of molecular genetic testing for hearing loss (HL) since they are one of the common causes of hereditary HL in many populations. However, a large size of the SLC26A4 gene (20 coding exons) predetermines the difficulties of its complete mutational analysis, especially in large ...
Danilchenko VY +3 more
europepmc +4 more sources
Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. [PDF]
PLoS ONE, 2014 Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations have different pathogenetic mechanisms.
Ying-Chang Lu +9 more
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Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in
Journal of Translational Medicine, 2008 Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations.
Wu Bailin +9 more
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Journal of Translational Medicine, 2012 Background Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation.
Zhao Jiandong +6 more
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Novel mutations in the SLC26A4 gene
International Journal of Pediatric Otorhinolaryngology, 2012 Mutations in the SLC26A4 gene (7q22.3-7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness. The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other ...
Busi M +8 more
core +6 more sources
Extremely discrepant mutation spectrum of
Journal of Translational Medicine, 2011 Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei +9 more
doaj +2 more sources
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome [PDF]
Nature Communications, 2020 While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations.
Mengnan Li +21 more
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Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy. [PDF]
Mol Genet Genomic MedIn a Han Chinese hearing‐loss cohort from Southwest China, a tiered strategy combining targeted hotspot screening and whole‐exome sequencing established molecular diagnoses in 25 patients, including one involving a CDH23 truncating variant not previously reported in Han Chinese patients with hearing loss, and identified a candidate SLC12A2 variant ...
Zhang Y +6 more
europepmc +2 more sources