Results 161 to 170 of about 8,250 (205)

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

International Journal of Audiology, 2009
The aim of this study was to describe the clinical features of hearing loss due to mutations on connexin 26/30 coding genes (GJB2/GJB6). Mutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessive non-syndromic deafness.
Rosamaria Santarelli, Elisabetta Genovese, Massimo Carella   +2 more
exaly   +7 more sources

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O gene GJB2

Genética na Escola, 2021
A perda auditiva ou surdez é um dos mais importantes defeitos sensoriais para os seres humanos, com enorme impacto na comunicação. A perda auditiva é um fenótipo de estudo complexo, dada a sua natureza heterogênea. Pode ser causada por fatores ambientais e genéticos, ou ser resultado da combinação de ambos.
Larissa Nascimento Antunes, Lilian Kimura, Renan Barbosa Lemes, Regina Célia Mingroni Netto, Ana Carla Batissoco   +4 more
openaire   +1 more source

Hearing Impairment with Monoallelic GJB2 Variants: A GJB2 Cause or Non-GJB2 Cause?

The Journal of molecular diagnostics : JMD, 2022
Recessive variants in GJB2 are the most common genetic cause of sensorineural hearing impairment. However, in many patients, only one variant in the GJB2 coding region is identified using conventional sequencing strategy (eg, Sanger sequencing), resulting in nonconfirmative diagnosis.
Yi-Hsin, Lin, Ping-Che, Wu, Cheng-Yu, Tsai, Yin-Hung, Lin, Ming-Yu, Lo, Shu-Jui, Hsu, Pei-Hsuan, Lin, Jargalkhuu, Erdenechuluun, Hung-Pin, Wu, Chuan-Jen, Hsu, Chen-Chi, Wu, Pei-Lung, Chen   +11 more
openaire   +1 more source

GJB2 mutations in Baluchi population

Journal of Genetics, 2008
gene have been reported.Many are ‘private’mutations, having observedin only one orfew pedigrees, although very common alleles have also beenidentified in several populations including the 35delG allelein Caucasians, 167delTallelein AshkenaziJews, 235delCal-lele in east Asian population, and R143W mutation in Ghana(Nance 2003).
Anoosh, Naghavi, Carla, Nishimura, Kimia, Kahrizi, Yasser, Riazalhosseini, Niloofar, Bazazzadegan, Marzieh, Mohseni, Richard J H, Smith, Hossein, Najmabadi   +7 more
openaire   +2 more sources

Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

Human Genetics, 2022
Genetic variants in GJB2 are the most frequent cause of congenital and childhood hearing loss worldwide. The purpose of this study was to delineate the genetic and phenotypic landscape of GJB2 SNV variants. All possible single-nucleotide substitution variants of the coding region of GJB2 (N = 2043) were manually curated following the ACMG/AMP hearing ...
Jiale Xiang, Xiangzhong Sun, Nana Song, Sathishkumar Ramaswamy, Ahmad N. Abou Tayoun, Zhiyu Peng   +5 more
openaire   +2 more sources

Temporal Bone Imaging in GJB2 Deafness†

Laryngoscope, 2006
To describe temporal bone findings on computed tomography (CT) imaging in GJB2-related hearing loss (HL). We asked whether evaluation of the temporal bone is required in individuals with biallelic GJB2 mutations.Randomized, blinded, controlled, prospective measurement.Blood from 264 pediatric cochlear implant users was analyzed for mutations in the ...
Susan I Blaser, Karen Gordon, Tracy Stockley   +2 more
exaly   +3 more sources

GJB2 Mutations in the Swiss Hearing Impaired

Ear and Hearing, 2003
Mutations in the GJB2 gene encoding connexin 26 (Cx26) protein are a major cause for nonsyndromic autosomal recessive and sporadic deafness. However, its contribution to hearing impairment in Switzerland remains undefined. To determine the frequency and type of GJB2 mutations in the Swiss hearing-impaired population diagnosed under the age of 2 yr and ...
Nicolas, Gürtler, Yuil, Kim, Anand, Mhatre, René, Müller, Rudolf, Probst, Anil K, Lalwani   +5 more
openaire   +2 more sources

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

American Journal of Medical Genetics, Part A, 2004
International audienceRecent investigations identified a large deletion of the GJB6 gene in trans to a mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6 deletions in 255 French patients presenting with a phenotype compatible with ...
Sébastien SCHMERBER, Christine Petit, Pierre Chauvin   +2 more
exaly   +2 more sources

GJB2 Gene Mutations in Childhood Deafness

Acta Oto-Laryngologica, 2000
The frequency of childhood deafness is estimated at 1:1,000 and at least half of these cases are genetic. Recently, mutations in the GJB2 gene have been found in a great number of familial and sporadic cases of congenital deafness in Caucasians. The most common mutation (70%) is the frameshift mutation of a single guanine in position 35 (35delG).
S, Angeli, R, Utrera, S, Dib, E, Chiossone, C, Naranjo, O, Henríquez, M, Porta   +6 more
openaire   +2 more sources

Feingold syndrome with GJB2 variants

Auris Nasus Larynx
Congenital hearing loss is the most common birth defect, with genetic factors implicated in 50 % of prelingual cases. GJB2 variant, causing up to 50 % of autosomal recessive non-syndromic hearing loss, typically show stable hearing profiles and favorable cochlear implant (CI) outcomes.
Yoshihiro Nitta, Hajime Sano, Yoshihiro Yoshimura, Fumio Takada, Taku Yamashita   +4 more
openaire   +2 more sources