Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000059086 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Biomolecules
January 2021
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.
Mutations in the gene encoding transmembrane protein connexin 26 (Cx26) are the most common cause for hearing loss worldwide. Cx26 plays a crucial role in the ionic and metabolic homeostasis in the inner ear, indispensable for normal hearing process. Different pathogenic mutations in the gene can affect all stages of the Cx26 life cycle and result in nonsyndromic autosomal recessive (DFNB1) or dominant (DFNA3) deafness and syndromes associating hearing loss with skin disorders.
View Article and Find Full Text PDFA novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Sci Rep
January 2017
Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China.
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 of the phenotype were verified in all ascertained family members. Targeted genes capture and next-generation sequencing (NGS) were performed to explore additional genetic variations.
View Article and Find Full Text PDFHair phenotype in non-syndromic deafness.
Int J Pediatr Otorhinolaryngol
August 2013
Otolaryngology and Otosurgery Unit, University Hospital of Padova, Italy.
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. Moreover, it has been demonstrated that connexins are involved in regulation of growth and differentiation of epidermal tissues.
View Article and Find Full Text PDFThe spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
Int J Pediatr Otorhinolaryngol
August 2012
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Objective: Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the DFNA3 locus. In this study, we investigated the prevalence of GJB2 mutations in the Iranian deaf population.
Methods: A total of 2322 deaf probands presenting the ethnically diverse Iranian population were screened for variants in GJB2.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!