Results 11 to 20 of about 8,250 (205)

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 [PDF]

Journal of Translational Medicine, 2010
Background Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6% of Chinese patients with severe to profound sensorineural hearing impairment, only monoallelic GJB2 mutations known to be either ...
Zhang Xin, Yu Ruili, Huang Shasha, Wang Guojian, Yu Fei, Yuan Yongyi, Huang Deliang, Han Dongyi, Dai Pu   +8 more
doaj   +5 more sources

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region [PDF]

Genes, 2021
Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results showed that individuals with a heterozygous pathogenic
Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková, Vlasta Čejnová, Dagmar Rašková, Filip Lhota, Daniela Gašperíková, Pavel Seeman   +11 more
openaire   +3 more sources

Progress in Understanding GJB2-Linked Deafness

Public Health Genomics, 2003
Mutations in the GJB2 gene (encoding for Connexin 26 protein) represent a leading cause of genetic hearing impairment. Extensive epidemiological and molecular studies have been reported, describing GJB2 mutations type, frequency and distribution. Moreover, several aspects of GJB2 mutations pathogenic effects have been elucidated taking advantage of in ...
GUALANDI F, MARTINI, ALESSANDRO, CALZOLARI E.   +2 more
openaire   +5 more sources

Analysis of GJB2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss [PDF]

Turkish Archives of Otorhinolaryngology, 2014
Objective:This study was performed to investigate the GJB2 (connexin 26) gene mutations that are the most frequent cause of sensorineural deafness in patients with congenital non-syndromic sensorineural hearing loss in our region.Methods:Sixty patients ...
Emin Kaskalan, Ebru Etem Önalan, İrfan Kaygusuz, Turgut Karlıdağ, Erol Keleş, Abdulvahap Akyiğit, Şinasi Yalçın   +6 more
doaj   +2 more sources

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). [PDF]

PLoS ONE, 2011
Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in ...
Juan Rodriguez-Paris, Marta L Tamayo, Nancy Gelvez, Iris Schrijver   +3 more
doaj   +3 more sources

Unique spectrum of GJB2 mutations in Mexico

International Journal of Pediatric Otorhinolaryngology, 2012
The aim of this study was to elucidate the involvement of mutations in three relatively common deafness genes in Mexican individuals with non-syndromic hearing loss.We sequenced GJB2 for mutations, screened for two deletions involving GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), and for the m.1555A>G mutation in the MTRNR1 gene in 76 (71 simplex ...
Maria, de la Luz Arenas-Sordo, Ibis, Menendez, Edgar, Hernández-Zamora, Asli, Sirmaci, Diana, Gutiérrez-Tinajero, Molly, McGetrick, Paulina, Murphy-Ruiz, Xolotl, Leyva-Juárez, Fabiola, Huesca-Hernández, Juan, Dominguez-Aburto, Mustafa, Tekin   +10 more
openaire   +3 more sources

Nonsendromik İşitme Kayıplı Olgularda GJB2 Mutasyon Dağılımı

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 2020
Giriş: İşitme kaybı, popülasyonda 1/500-1000 sıklıkta rastlanan en sık görülen duyu kusurudur. Herediter işitme kayıplarının yaklaşık %25’i sendromiktir. Nonsendromik olan kısımda ise kalıtım pateni %80 otozomal resesif, geri kalan %20 otozomal dominant şeklindedir. Otozomal resesif nonsendromik işitme kaybı olgularının %20-40’ında, bir “sıkı bağlantı”
Tahir ATİK, Bilçağ AKGÜN, Esra IŞIK, Feriştah Ferda ÖZKINAY   +3 more
core   +5 more sources

GJB2 and GJB6 Mutations

, 2005
Objectives: To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with DFNB1.Design: Case series.Setting: Collaborative study in referral centers, institutional practice. Patients A total of 256 hearing-impaired patients selected on the basis of the presence of biallelic mutations in GJB2 or
Marlin, Sandrine, Feldmann, Delphine, Blons, Hélène, Loundon, Natalie, Rouillon, Isabelle, Albert, Sébastien, Chauvin, Pierre, Garabédian, Eréa-Noël, Couderc, Rémy, Odent, Sylvie, Joannard, Alain, Schmerber, Sébastien, Delobel, Bruno, Leman, Jacques, Journel, Hubert, Catros, Hélène, Lemarechal, Cédric, Dollfus, Hélène, Eliot, Marie-Madeleine, Delaunoy, Jean-Louis, David, Albert, Calais, Catherine, Drouin-Garraud, Valérie, Obstoy, Marie-Françoise, Goizet, Cyril, Duriez, Françoise, Fellmann, Florence, Hélias, Jocelyne, Vigneron, Jacqueline, Montaut, Bettina, Matin-Coignard, Dominique, Faivre, Laurence, Baumann, Clarisse, Lewin, Patricia, Petit, Christine, Denoyelle, Françoise   +35 more
openaire   +2 more sources

Congratulation to Margaret Chan Familial and Sporadic GJB2-Related Deafness in Iran: Review of Gene Mutations [PDF]

Iranian Journal of Public Health, 2007
Background: Mutations in the GJB2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations.
M Hashemzadeh Chaleshtori, DD Farhud, MA Patton   +2 more
doaj   +4 more sources

A genotype-phenotype correlation for GJB2 (connexin 26) deafness [PDF]

Journal of Medical Genetics, 2004
Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. Objective: To assess a possible genotype-phenotype correlation for GJB2.
Cryns, K., Orzan, E., Murgia, A., Huygen, P.L., Moreno, F., del Castillo, I., Chamberlin, G. Parker, Azaiez, H., Prasad, S., Cucci, R.A., Leonardi, E., Snoeckx, R.L., Govaerts, P.J., Van de Heyning, P.H., Van De Heyning, C.M., Smith, R.J., Van Camp, G.   +16 more
core   +9 more sources