نتایج جستجو برای: جهش های gjb2
تعداد نتایج: 479512 فیلتر نتایج به سال:
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...
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 affected members of a large family with late childhood onset of autosomal dom...
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking...
GJB2: gap junction protein b2 KID: keratitis-ichthyosis-deafness INTRODUCTION Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis with approximately 100 published cases. Although it is classified as an autosomal dominant disorder, more than 90% of cases are caused by sporadic mutations predominantly in gap junction protein b2 (GJB2) on chromosome 13q11-q12 (OMIM 148210). GJB2 ...
تجزیه و تحلیل پیوستگی ژنتیکی لوکوس dfnb۷/۱۱ در بیماران ناشنوای غیر سندرومی مغلوب اتوزومی استان همدان
زمینه و هدف: ناشنوایی متداول ترین نقص حسی در انسان است. ناشنوایی ممکن است هدایتی، حسی- عصبی یا ترکیبی از هر دو، سندرومی یا غیرسندرومی، پیش از تکلم یا پس از تکلم باشد. به دلیل پیچیدگی مکانیسم شنوایی جای تعجب نیست که چند صد ژن در ایجاد ناشنوایی توارثی نقش داشته باشند. تاکنون 152 لوکوس شناسایی شده که با رایج ترین نوع ناشنوایی یعنی ناشنوایی غیرسندرومی مرتبط هستند. هدف از این مطالعه تجزیه و تحلیل پی...
South European cases with autosomal recessive inherited hearing loss (4,8). The frequent incidence of the 35delG mutation requires analyzing both affected individuals and parents (in terms of being carriers) for genetic counseling. The aim of this study was to determine the frequency of GJB2 gene mutations in patients with congenital NSSNHL and to investigate new mutations of the GJB2 gene in o...
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...
BACKGROUND Deafness is the most common sensory disability in the world. Globally, mutations in GJB2 (connexin 26) have been shown to play a major role in non-syndromic deafness. Two other connexin genes, GJB6 (connexin 30) and GJA1 (connexin 43), have been implicated in hearing loss, but these genes have seldom been investigated in black Africans. We aimed to validate the utility of testing for...
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