Results 171 to 180 of about 8,250 (205)

Low frequency of deafness‐associated GJB2 variants in Kenya and Sudan and novel GJB2 variants

Human Mutation, 2004
A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated children from Kenya and Sudan, respectively, with mostly severe to profound non-syndromic deafness.
Nagla M A, Gasmelseed, Martin, Schmidt, Mubarak M A, Magzoub, Muthure, Macharia, Osman M, Elmustafa, Benson, Ototo, Enno, Winkler, Gerd, Ruge, Rolf D, Horstmann, Christian G, Meyer   +9 more
openaire   +2 more sources

Audiological Features of GJB2 (Connexin 26) Deafness

Ear and Hearing, 2005
The aim of the present study was to characterize audiological profiles in patients with GJB2 deafnessWe screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis. A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous or compound heterozygous ...
Xue Zhong, Liu, Arti, Pandya, Simon, Angeli, Fred F, Telischi, Kathleen S, Arnos, Walter E, Nance, Thomas, Balkany   +6 more
openaire   +2 more sources

Comorbidity of GJB2 and WFS1 mutations in one family

Gene, 2012
It is rarely reported that two distinct genetic mutations affecting hearing have been found in one family. We report on a family exhibiting comorbid mutation of GJB2 and WFS1. A four-generation Japanese family with autosomal dominant sensorineural hearing loss was studied. In 7 of the 24 family members, audiometric evaluations and genetic analysis were
Shujiro B, Minami, Sawako, Masuda, Satoko, Usui, Hideki, Mutai, Tatsuo, Matsunaga   +4 more
openaire   +2 more sources

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2

Annals of Otology, Rhinology & Laryngology, 2011
Objectives: We describe the phenotype of 2 Dutch DFNA3 families with mutations in the GJB2 gene. Methods: Two patients from family 1 and one isolated patient from family 2 were studied.
Weegerink, N.J.D., Pennings, R.J.E., Huygen, P.L.M., Hoefsloot, L.H., Cremers, C.W.R.J., Kunst, H.P.M.   +5 more
openaire   +3 more sources

GJB2 mutations: Passage through Iran

American Journal of Medical Genetics Part A, 2005
AbstractHereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe‐to‐profound deafness in many different populations.
Hossein, Najmabadi, Carla, Nishimura, Kimia, Kahrizi, Yasser, Riazalhosseini, Mahdi, Malekpour, Ahmad, Daneshi, Mohammad, Farhadi, Marzieh, Mohseni, Nejat, Mahdieh, Ahmad, Ebrahimi, Niloofar, Bazazzadegan, Anoosh, Naghavi, Matthew, Avenarius, Sanaz, Arzhangi, Richard J H, Smith   +14 more
openaire   +2 more sources

GJB2: The spectrum of deafness-causing allele variants and their phenotype

Human Mutation, 2004
Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1. Exon 2 of GJB2 was screened for coding sequence allele variants by denaturing high-performance liquid chromatography (DHPLC) complemented by bidirectional sequencing.
Azaiez, Hela, Chamberlin, G. Parker, Fischer, Stephanie M., Welp, Chelsea L., Prasad, Sai D., Taggart, R. Thomas, del Castillo, Ignacio, Van Camp, Guy, Smith, Richard J.H.   +8 more
openaire   +3 more sources

Bioinformatic Analysis of GJB2 Gene Missense Mutations

Cell Biochemistry and Biophysics, 2014
Gap junction beta 2 (GJB2) gene is the most commonly mutated connexin gene in patients with autosomal recessive and dominant hearing loss. According to Ensembl (release 74) database, 1347 sequence variations are reported in the GJB2 gene and about 13.5% of them are categorized as missense SNPs or nonsynonymous variant.
openaire   +2 more sources

High-throughput screening for GJB2 mutations—its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations

Auris Nasus Larynx, 2002
Mutations in connexin26 (GJB2) are one of the most frequent causes of prelingual hearing impairment. Several different types of one-base deletions in exon2 were the most common type of GJB2 mutation regardless of ethnicity, including 35delG in American-European populations, 235delC in Japanese population and 167delT in Ashkenazi Jewish population ...
Akemi, Sugata, Kunihiro, Fukushima, Ken-ichi, Sugata, Syouichiro, Fukuda, Nobuhiko, Kimura, Mehmet, Gunduz, Norio, Kasai, Shinichi, Usami, Richard J H, Smith, Kazunori, Nishizaki   +9 more
openaire   +2 more sources

Does Universal Newborn Hearing Screening Identify All Children with GJB2 (Connexin 26) Deafness? Penetrance of GJB2 Deafness

Ear and Hearing, 2006
Deafness is the most common neurosensory defect at birth, and GJB2 (connexin 26) mutations are the most frequent genetic cause of hearing loss in many populations. The hearing loss caused by GJB2 mutations is usually congenital in onset and moderate to profound in degree. Considerable phenotypic variation has been noted however, including two anecdotal
Virginia W, Norris, Kathleen S, Arnos, Wendy D, Hanks, Xia, Xia, Walter E, Nance, Arti, Pandya   +5 more
openaire   +2 more sources

Identification of 605ins46, a novel GJB2 mutation in a Japanese family

Auris Nasus Larynx, 2002
Connexin 26 gene (GJB2) mutations are known to be responsible for a significant portion (30-80%) of autosomal recessive congenital severe to profound deafness. More than 60 recessive mutations in GJB2 have been reported and most consist of point mutations of a nucleotide.
Isamu, Yuge, Akihiro, Ohtsuka, Tatsuo, Matsunaga, Shin-ichi, Usami   +3 more
openaire   +2 more sources