Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases
Balkan Journal of Medical Genetics, 2016 Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups.
Xing J, Liu X, Tian Y, Tan J, Zhao H
doaj +1 more source
Prevalent connexin 26 gene (GJB2) mutations in Japanese [PDF]
Journal of Medical Genetics, 2000 The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance.
S, Abe +4 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 +2 more
doaj +2 more sources
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 +8 more
doaj +1 more source
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss. [PDF]
Current Genomics, 2011 The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss.
Iossa S +2 more
openaire +6 more sources
A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation [PDF]
Acta Otorhinolaryngologica Italica, 2017 Le mutazioni dominanti del gene GJB2 sono causa di forme di sordità neurosensoriale sindromiche associate a manifestazioni cutanee palmo-plantari. In questo lavoro viene descritta la correlazione genotipo / fenotipo di una nuova mutazione nel gene ...
I. Stanghellini +5 more
doaj +1 more source
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants
Biology, 2023 The GJB2 gene is the most common gene responsible for hearing loss (HL) worldwide, and missense variants are the most abundant type. GJB2 pathogenic missense variants cause nonsyndromic HL (autosomal recessive and dominant) and syndromic HL combined with
Lu Mao +9 more
doaj +1 more source
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene
Acta Dermato Venereologica, 2019 Abstract is missing (Short communication)
Guerra L +11 more
openaire +5 more sources
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Research progress in delineating the pathological mechanisms of GJB2-related hearing loss
Frontiers in Cellular Neuroscience, 2023 Hearing loss is the most common congenital sensory impairment. Mutations or deficiencies of the GJB2 gene are the most common genetic cause of congenital non-syndromic deafness.
Yujun Wang +6 more
doaj +1 more source