نتایج جستجو برای: gjb2 gene

تعداد نتایج: 1141753  

Journal: :Journal of medical genetics 2005
F J del Castillo M Rodríguez-Ballesteros A Alvarez T Hutchin E Leonardi C A de Oliveira H Azaiez Z Brownstein M R Avenarius S Marlin A Pandya H Shahin K R Siemering D Weil W Wuyts L A Aguirre Y Martín M A Moreno-Pelayo M Villamar K B Avraham H-H M Dahl M Kanaan W E Nance C Petit R J H Smith G Van Camp E L Sartorato A Murgia F Moreno I del Castillo

H earing impairment is a common and highly heterogeneous sensory disorder. Genetic causes are thought to be responsible for more than 60% of the cases in developed countries. In the majority of cases, non-syndromic hearing impairment is inherited in an autosomal recessive pattern. Thirty eight different loci and 20 genes for autosomal recessive non-syndromic hearing impairment (ARNSHI) have bee...

2017
Pawan Kumar Singh Manju Ghosh Shipra Sharma Shivaram Shastri Neerja Gupta Madhumita Roy Chowdhury Anuranjan Anand Madhulika Kabra

BACKGROUND & OBJECTIVES Hearing impairment is a common and heterogeneous sensory disorder in humans. Among about 90 genes, which are known to be associated with hearing impairment, mutations in the GJB2 (gap junction protein beta 2) gene are the most prevalent in individuals with hereditary hearing loss. Contribution of the other deafness-causing genes is relatively poorly understood. Here, we ...

2012
Joong-Wook Shin Seung-Chul Lee Ho-Ki Lee Hong-Joon Park

OBJECTIVES Genetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major etiologies of genetic hearing loss among Koreans. The purpose of this study is to investigate the genetic cause of deafness in Korean cochlear impl...

Journal: :مجله دانشگاه علوم پزشکی شهید صدوقی یزد 0
مهدی مغنی باشی m moghannibashi حسین خدایی h khodaie مرتضی سیفتی m seifati محمود میراب m mirab کیمیا کهریزی k kahrizi یاسر ریاض الحسینی y riazzalhoseini عاطفه دهقانی

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...

Journal: :Journal of medical genetics 2001
L Van Laer P Coucke R F Mueller G Caethoven K Flothmann S D Prasad G P Chamberlin M Houseman G R Taylor C M Van de Heyning E Fransen J Rowland R A Cucci R J Smith G Van Camp

Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the high frequency of this allelic variant is the result of a founder effect rather than a mutational ...

2016
Ichiro Fukunaga Ayumi Fujimoto Kaori Hatakeyama Toru Aoki Atena Nishikawa Tetsuo Noda Osamu Minowa Nagomi Kurebayashi Katsuhisa Ikeda Kazusaku Kamiya

Mutation of the Gap Junction Beta 2 gene (GJB2) encoding connexin 26 (CX26) is the most frequent cause of hereditary deafness worldwide and accounts for up to 50% of non-syndromic sensorineural hearing loss cases in some populations. Therefore, cochlear CX26-gap junction plaque (GJP)-forming cells such as cochlear supporting cells are thought to be the most important therapeutic target for the ...

2017
Hongyang Wang Kaiwen Wu Lan Yu Linyi Xie Wenping Xiong Dayong Wang Jing Guan Qiuju Wang

To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation...

2014
Ralf Birkenhäger Nicola Prera Antje Aschendorff Roland Laszig Susan Arndt

To date, about 165 genetic loci or genes have been identified which are associated with nonsyndromal hearing impairment. In about half the cases, genetic defects in the GJB2 gene (connexin 26) are the most common cause of inner-ear deafness. The genes GJB2 and GJB6 are localized on chromosome 13q11-12 in tandem orientation. Connexins belong to the group of "gap junction" proteins, which form co...

Journal: :BMC Ear, Nose and Throat Disorders 2005
Igor Medica Gorazd Rudolf Manuela Balaban Borut Peterlin

BACKGROUND C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. METHODS We examined 63 Croatian sub...

Journal: :Clinical genetics 2010
E Wilch H Azaiez R A Fisher J Elfenbein A Murgia R Birkenhäger H Bolz S M Da Silva-Costa I Del Castillo T Haaf L Hoefsloot H Kremer C Kubisch C Le Marechal A Pandya E L Sartorato E Schneider G Van Camp W Wuyts R J H Smith K H Friderici

Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previou...

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