Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
نویسندگان
چکیده
منابع مشابه
Mitochondrial gene mutation screening in hearing loss patients, Hormozgan, Iran
Introduction: Hearing loss is the most frequent sensory disorder occurs in 1/1000 newborns. About 50% of hearing loss cases are due to genetic causes. Mutation in MTRNR1(A1555G), MTTL1(A3243G) and MTTS1(A7445G) are known to be one of the important cause of nonsyndromic Sensorineural hearing loos in some populations. This study aims to demonstrate the frequency of three mitochondrial mutatio...
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Objectives: Quality of life, when referring to an individual’s health, is called health-related quality of life. The purpose of this study is to assess self-perceived hearing loss related quality of life of adolescents with hearing loss and its relationship with sex, age sub-groups or school settings with domains of quality of life. Methods: A school based survey was conducted in Tehra...
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Inner ear cells are sensitive to some metabolic and hormonal disorders, but the relation between chronic renal failure (CRF), regular dialysis treatment (RDT) and sensorineural hearing loss (SNHL) is still a debatable field. The object of this paper was to verify the presence of SNHL in patients submitted to hemodialysis with different duration due to CRF and in those submitted to conservat...
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Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene. The aim of this study was to evaluate mutations in exon 10 of SLC26A4 gene in individuals with hearing loss in Guilan province. Materials and Methods: In this descriptive cross-sect...
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Background: Occupational noise-induced hearing loss (ONIHL) is a hearing disorder that affects workers all over the world. Preconditioning with several mild or less potent stressors will effectively prevent the development of noise-induced hearing loss. This study investigated the possible preventive effects of normobaric hyperoxia preconditioning on preventing the noise-induced hearing impairm...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2020
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-020-00724-6