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 epidermis and, in fact, GJB2 mutations have also been identified in syndromic disorders with hearing loss associated with various skin disease phenotypes. GJB2 mutations associated with skin disease are, in general, transmitted with a dominant inheritance pattern. Nonsyndromic deafness is caused prevalently by a loss-of-function, while literature evidences suggest for syndromic deafness a mechanism based on gain-of-function. The spectrum of skin manifestations associated with some mutations seems to have a very high phenotypic variability. Why some mutations can lead to widely varying cutaneous manifestations is poorly understood and in particular, the reason why the skin disease-deafness phenotypes differ from each other thus remains unclear. This review provides an overview of recent findings concerning pathogenesis of syndromic deafness imputable to GJB2 mutations with an emphasis on relevant clinical genotype-phenotype correlations. After describing connexin 26 fundamental characteristics, the most relevant and recent information about its known mutations involved in the syndromic forms causing hearing loss and skin problems are summarized. The possible effects of the mutations on channel expression and function are discussed.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219843 | PMC |
http://dx.doi.org/10.2174/138920211797904098 | DOI Listing |
Res Involv Engagem
January 2025
Patient Researcher and PPI Lead, College of Health and Life Sciences, Aston University, Birmingham, UK.
Background: Patient and Public Involvement and Engagement (PPIE) has become an integral component of contemporary audiology research. It aims to capture diverse views and experiences, essential for evaluating the long-term impact of technological advancements and care models on individuals. Traditional inclusion methods, such as focus groups, may exclude individuals with additional needs or communication difficulties, necessitating the development of more inclusive approaches.
View Article and Find Full Text PDFEur Arch Otorhinolaryngol
January 2025
Vrije Universiteit Brussel, Brussels Health Centre, Brussels, Belgium.
Purpose: Cochlear implants (CI) are the most successful bioprosthesis in medicine probably due to the tonotopic anatomy of the auditory pathway and of course the brain plasticity. Correct placement of the CI arrays, respecting the inner ear anatomy are therefore important. The ideal trajectory to insert a cochlear implant array is defined by an entrance through the round window membrane and continues as long as possible parallel to the basal turn of the cochlea.
View Article and Find Full Text PDFEur Arch Otorhinolaryngol
January 2025
Otolaryngology - Head and Neck Surgery, section Ear & Hearing, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, 1081 HV, The Netherlands.
Purpose: Scanning during infancy is often required in otology, preferably without general anaesthesia. This study aims to determine the success rate of MRI of the head without general anaesthesia for infants, and to identify predictors for a successful scan.
Methods: Data was extracted from the electronic patient file for patients who received MRI of the head without general anaesthesia between 01-01-2019 and 31-12-2022 at an age younger than 6 months.
J Commun Disord
December 2024
Department of Rehabilitation Sciences, Ghent University, Corneel Heymanslaan 10 (2P1), Ghent 9000, Belgium; Department of Oto-rhino-laryngology, Ghent University Hospital, Corneel Heymanslaan 10 (2P1), Ghent 9000, Belgium.
Introduction: Hearing loss is a commonly occurring condition with dementia. Research already presented a theoretical framework for the auditory-cognitive interactions, though it is still unclear if and how professionals beyond audiologists act upon this interactions in clinical practice.
Methods: An online 64-item questionnaire was developed and evaluated respondents' work setting as well as their knowledge, experience, and awareness regarding hearing loss, cognitive decline, and the auditory-cognitive link.
J Commun Disord
December 2024
CQUniversity, School of Health, Medical and Applied Sciences, Appleton Institute, Australia.
Introduction: Otitis Media (OM) is one of the most common infections in young children and can create fluctuating hearing loss. Despite the commonality of this condition, there is a lack of conclusive evidence on its impact on speech production outcomes. Therefore, the aim of this systematic review was to identify the impact of otitis media on speech production in children.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!