نتایج جستجو برای: syndromic hearing loss
تعداد نتایج: 490930 فیلتر نتایج به سال:
PURPOSE This study aimed to correlate probable predisposing factors for sensorineural hearing loss in elderly by investigating the audiologic characteristics and frequency of mutations in genes considered responsible for non-syndromic hearing loss. METHODS Sixty elderly patients were separated into two groups: the Case Group, composed of 30 individuals, 21 females and nine males, all 60 years...
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been demonstrated that connexins are involved in regulation of growth and differentiation of epidermi...
The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of genes encoding a large variety of proteins. Mutations in these genes have been discovered for patients with different modes of inheritance and types of hearing loss, ranging from syndromic to non-syndromic and mild to profound. In many cases, the mechanisms whereby the mutations lead to hearing loss have...
Background and Objective: Mutations in GJB2 gene is the most common cause of autosomal recessive non-syndromic hearing loss in many populations. The aim of this study was to determine the frequency of 35delG, 167delT, M34T, 235delC mutations in West Azarbaijan population. Materials and Methods: 129 patients from 96 families were studied. Mutations were detected using ASO-PCR and PCR-RFLP method...
OBJECTIVE To study connexin 26 (Cx26) gene mutations among autosomal recessive non-syndromal hearing loss in Kuwaiti patients and evaluate their effect on phenotypes. SUBJECTS AND METHODS This cross sectional study included 100 patients aged between 6 months and 18 years, who were referred to the Sheikh Salem Al-Ali Centre for audiology and speech evaluation of autosomal recessive non-syndrom...
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...
Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsynd...
INTRODUCTION The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene. METHODS In total, 65 recessive non-syndromic hearing...
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