GJB2: 35delG
Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population.
... the GJB2 235delC polymorphism and development of congenital deafness, but their results have been inconsistent (Dai et ...the GJB2 235delC mutation is more prevalent among patients with hearing impairments ...
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Original Article Mutation of genes associated with hearing loss levels in the southern Fujian area of China
... were GJB2 (35delG, 176_191del16, 235delC, 299_300delAT), SLC26A4 (IVS7-2A > G, 2168A > G), GJB3 (538C > T), and Mitochondrial 12S rRNA (1555A > G, 1494C > ...
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Specific Distribution of GJB2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population
... of GJB2 mutations in Kurdistan province of Iran is 20% that almost seem to be consistent with results of Mahdieh et al [23] also conducted on a Kurdish ...2 GJB2 variants, including 35delG and ...
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Clinical Studies of Families With Hearing Loss Attributable to Mutations in the Connexin 26 Gene (GJB2/DFNB1)
... Results. Although all persons had hearing impair- ment, no consistent audiologic phenotype was observed. Hearing loss varied from mild-moderate to profound, even within the group of families homozygous for the common ...
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Review: Deaf mute or Deaf
... There are a large number of genes that can cause deafness. More than half of all genetic cases in some of the populations are due to recessive mutations at a single locus, GJB2 (gene gap junction protein beta2) or ...
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Non-Syndromic Autosomal Recessive Deafness in Gaza Strip: A Study of Five GJB2 Gene Mutations
... GJB2 c.35delG was the most frequently encountered mutation where 25 of the 70 probands (35.7%) were found to be either homozygous (34.3%) or heterozygous (1.4%) for this mutation. Heterozygosity was ...
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Original Article Molecular genetics study of the locus of the midrange sensorineural deafness unique to the non-syndromes of ethnic minorities in Yunnan province
... the GJB2 gene researched ...all GJB2 mutations [18]. The GJB2 gene encodes Cx26, which is widely distributed in the vascu- lar striate, basal cells, spiral margin, neurosen- sory epithelium, and ...
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Strong founder effect of p P240L in CDH23 in Koreans and its significant contribution to severe to profound nonsyndromic hearing loss in a Korean pediatric population
... in GJB2, several studies reported the frequency of 235delC among East Asians [22], 35delG in the Caucasians [28], and 167delT in Ashkenazi Jews [29], suggesting that these were the result of a founder ...
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The role of gene GJB2 and connexin 26 in hearing impairment
... Мутации GJB2 также выявлены при несиндро- мальной тугоухости (в 75% случаев), которая не сопровождается другими аномалиями в организ- ...Мутации 35delG и Cys169Tyr являются наиболее распространенными ...
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Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum
... 111 GJB2 mutations. The c.35delG mutation is most preva- lent in Europe and the United States, compared with ...a GJB2 mutation distribution of approximately 20% that was responsible for NSHI in ...
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Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China
... As shown in Table 1, there were totally fifteen kinds of dif- ferent GJB2 variations detected in the patients and controls. Among these, one variant c.257C > G (T86R) in coding re- gion was novel pathogenic ...
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Original Article GJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China
... them, GJB2 and SLC26A4 mutations were the common types of muta- tions and a few cases carried mutations in 12S rRNA and ...and 35delG) pathogenic muta- tions of GJB2 genes were found in this cohort ...
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Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
... monoallelic GJB2 coding region ...the GJB2 exon 1, -3175 C>T, was detected in a patient with 235delC ...the GJB2 basal promoter region were found in this ...of GJB2 , the separate ...
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Functional Evaluation of GJB2 Variants in Nonsyndromic Hearing Loss
... The association of the p.V37I and p.M34T variants with HL has been simi- larly controversial, because these variants were detected in both patients and con- trols (40–42). However, in in vitro func- tional studies, ...
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Investigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
... Hearing loss is very heterogeneous in different populations. Here we investigated the prevalence of three different genes (GJB4, GJC3, and SLITRK6) in ARNSHL in Iran among 100 families who were negative for GJB2 ...
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Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations
... the GJB2 gene using direct sequencing ...the GJB2 gene, the primers F: 5'- CGTCTTTTCCAGAG- CAAACCG -3' and R: 5'- AGCTCCATTGTGG- CATCTGG -3' were used in the PCR ...of GJB2 gene (809 bp in length) ...
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Original Article Genetic mutations of deafness-related gene among pregnant women in Fujian province of South China
... have GJB2 mutation ...have GJB2 heterozygous 235 del C and SLC26A4 heterozygous 2168 A>G mutations, and one have SLC26A4 heterozygous IVS7-2 A>G and 2168 A>G ...
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Integrated whole genome microarray analysis and immunohistochemical assay identifies COL11A1, GJB2 and CTRL as predictive biomarkers for pancreatic cancer
... chain; GJB2: gap junction beta-2 protein; CTRL: chymot- rypsin-like protease CTRL-1; IHC: immunohistochemical; DAVID: Database for Annotation, Visualization and Integrated Discovery; CC: cellular component; BP: ...
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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
... Mutations in the GJB2 gene are respon- sible for up to 50% of all cases of autosomal recessive hearing impairment in most of the populations tested so far, with a frequent mutation (35de[r] ...
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Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
... after GJB2 muta- tions, and are responsible for Pendred syndrome as well as DFNB4 (non-syndromic hearing loss with inner ear abnormalities, such as enlarged vestibular aqueduct (EVA) with or without Mondini ...
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