نتایج جستجو برای: ژن gjb2
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زمینه و هدف: بروز ناشنوایی پیش از تکلم در نوزادان یک در هزار است که بیش از 60% موارد ارثی است. تقریبا 80% موارد ناشنوایی غیر سندرمی (nshl) می باشد. ناشنوایی غیر سندرمی بسیار هتروژن بوده و بیش از 100 لوکوس در آن شناخته شده که متداول ترین نوع آن مغلوب اتوزومی (arnshl) است. این مطالعه با هدف بررسی جهش های ژنی روی کانکسین 26 (gjb2) و کانکسین 30 (gjb6) و پیوستگی ژنتیکی سه لوکوس شایع ناشنوایی غیر سند...
background: mutations in the gjb2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection ...
INTRODUCTION Several studies have associated congenital sensorineural hearing loss in children with prolongation of the cardiac parameter QTc. The cause of this association is unknown. At the same time, mutations in GJB2, which encodes connexin 26, are the most common cause of congenital hearing impairment. OBJECTIVE To compare electrocardiographic parameters (PR interval, QRS complex, and QT...
Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G→T mutation in GJB2 in all aVected members of a large family with late childhood onset of autosomal domina...
Background Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit tremendous genetic heterogeneity. We aimed to determine the contribution of three common DFNB loci (DFNB4, DFNB28, and DFNB93), and mutation analysis of Gap Junction Beta-2 gene (GJB2) and GJB3 genes in ARNSHL subjects in southern Iran. Methods Thirty-six large ARN...
Background: Inherited hearing impairment affects about 1 in 1000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in many populations have mutations in the gene encoding the gap junction protein connexin 26 (GJB2) at locus DFNB1 (autosomal recessive nonsyndromic deafness) on chromosome 13q11-12. In East Asia, there is a common mutation (235del...
زمینه و هدف: ناشنوایی یک اختلال شایع حسی است. نزدیک به 360 میلیون ناشنوا در سراسر دنیا وجود دارد. بیش از 50% موارد ناشنوایی به دلیل فاکتورهای ژنتیکی است. حدود 70% موارد ارثی ناشنوایی، به دلیل اختلال شنوایی غیرسندرمی است که از این بین وراثت مغلوب اتوزومی مسئول 80% موارد است. ناشنوایی غیرسندرمی مغلوب اتوزومی بسیار هتروژن بوده و تاکنون بیش از 50 ژن برای آن شناخته شده است. در این مطالعه ما به بررس...
The most common cause of nonsyndromic autosomal recessive hearing loss is mutations in GJB2. The mutation spectrum and prevalence of mutations vary significantly among ethnic groups, and the relationship between p.V37I mutation in GJB2 and the hearing phenotype is controversial. Among the 3,864 patients in this study, 106 (2.74%) had a homozygous p.V37I variation or a compound p.V37I plus other...
Mutations in the GJB2 gene are responsible for up to 50% of cases of non-syndromic recessive hearing loss, with c.35delG, c.167delT and c.235delC being the predominant mutations in many world populations. However, a large number of rare mutations in this gene may also contribute to hearing loss. The aim of the present study was to conduct a clinical and molecular characterization of a Chinese f...
Hearing loss is the most widespread sensory disorder, with an incidence of congenital genetic deafness of 1 in 1600 children. For many ethnic populations, the most prevalent form of genetic deafness is caused by recessive mutations in the gene gap junction protein, beta 2, 26 kDa (GJB2), which is also known as connexin 26 (Cx26). Despite this knowledge, existing treatment strategies do not comp...
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