Abstract
Hearing loss is the most common sensory disorder, present in 1 of every 500 newborns. To date, 46 genes have been identified that cause nonsyndromic hearing loss, making it an extremely heterogeneous trait. This review provides a comprehensive overview of the inner ear function and expression pattern of these genes. In general, they are involved in hair bundle morphogenesis, form constituents of the extracellular matrix, play a role in cochlear ion homeostasis or serve as transcription factors. During the past few years, our knowledge of genes involved in hair bundle morphogenesis has increased substantially. We give an up-to-date overview of both the nonsyndromic and Usher syndrome genes involved in this process, highlighting proteins that interact to form macromolecular complexes. For every gene, we also summarize its expression pattern and impact on hearing at the functional level. Gene-specific cochlear expression is summarized in a unique table by structure/cell type and is illustrated on a cochlear cross-section, which is available online via the Hereditary Hearing Loss Homepage. This review should provide auditory scientists the most relevant information for all identified nonsyndromic deafness genes.
Keywords: Hereditary hearing loss, ARNSHL, ADNSHL, hair bundle, ion homeostasis, cochlear expression pattern
Current Molecular Medicine
Title: Function and Expression Pattern of Nonsyndromic Deafness Genes
Volume: 9 Issue: 5
Author(s): Nele Hilgert, Richard J.H. Smith and Guy Van Camp
Affiliation:
Keywords: Hereditary hearing loss, ARNSHL, ADNSHL, hair bundle, ion homeostasis, cochlear expression pattern
Abstract: Hearing loss is the most common sensory disorder, present in 1 of every 500 newborns. To date, 46 genes have been identified that cause nonsyndromic hearing loss, making it an extremely heterogeneous trait. This review provides a comprehensive overview of the inner ear function and expression pattern of these genes. In general, they are involved in hair bundle morphogenesis, form constituents of the extracellular matrix, play a role in cochlear ion homeostasis or serve as transcription factors. During the past few years, our knowledge of genes involved in hair bundle morphogenesis has increased substantially. We give an up-to-date overview of both the nonsyndromic and Usher syndrome genes involved in this process, highlighting proteins that interact to form macromolecular complexes. For every gene, we also summarize its expression pattern and impact on hearing at the functional level. Gene-specific cochlear expression is summarized in a unique table by structure/cell type and is illustrated on a cochlear cross-section, which is available online via the Hereditary Hearing Loss Homepage. This review should provide auditory scientists the most relevant information for all identified nonsyndromic deafness genes.
Export Options
About this article
Cite this article as:
Hilgert Nele, Smith J.H. Richard and Camp Van Guy, Function and Expression Pattern of Nonsyndromic Deafness Genes, Current Molecular Medicine 2009; 9 (5) . https://dx.doi.org/10.2174/156652409788488775
DOI https://dx.doi.org/10.2174/156652409788488775 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
Endocarditis Due to Salmonella Enterica Subsp. Arizonae in a Patient with Sickle Cell Disease: A Case Report and Review of the Literature
Cardiovascular & Hematological Disorders-Drug Targets Mitochondrial Alterations and Neuropsychiatric Disorders
Current Medicinal Chemistry Matricellular Proteins in Myocardial Infarction
Current Cardiology Reviews Muscle Development and Regeneration in Normal and Pathological Conditions: Learning from Drosophila
Current Pharmaceutical Design The Role of Aryl Hydrocarbon Receptor-Regulated Cytochrome P450 Enzymes in Glioma
Current Pharmaceutical Design Adult Stem Cells and Skeletal Muscle Regeneration
Current Gene Therapy The Emerging Role of Coenzyme Q-10 in Aging, Neurodegeneration, Cardiovascular Disease, Cancer and Diabetes Mellitus
Current Neurovascular Research The Role of 18FDG PET/CT in the Assessment of Endocarditis, Myocarditis and Pericarditis
Current Radiopharmaceuticals Clozapine Safety, 35 Years Later
Current Drug Safety The GLUTs Family - Lessons from Transgenic Mice
Current Medicinal Chemistry - Immunology, Endocrine & Metabolic Agents Mitochondrial Therapeutics for Cardioprotection
Current Pharmaceutical Design Cellular Cardiomyoplasty – Challenges of a New Era
Current Tissue Engineering (Discontinued) Investigational Positive Inotropic Agents for Acute Heart Failure
Cardiovascular & Hematological Disorders-Drug Targets Editorial [Hot Topic:Metabolic Therapy: An Important Therapeutic Option for the Treatment of Cardiovascular Diseases (Executive Editors: G.M.C. Rosano and G. Barbaro)]
Current Pharmaceutical Design Streptozotocin-Induced Diabetes Mellitus in Neonatal Rats: An Insight into its Applications to Induce Diabetic Complications
Current Diabetes Reviews Oxidative Stress Genes, Antioxidants and Coronary Artery Disease in Type 2 Diabetes Mellitus
Cardiovascular & Hematological Agents in Medicinal Chemistry Treating Heart Failure with Preserved Ejection Fraction Related to Arterial Stiffness. Can we Kill Two Birds With One Stone?
Current Vascular Pharmacology The Use of Carvedilol in Pediatric Heart Failure
Cardiovascular & Hematological Disorders-Drug Targets Ventilatory Abnormalities During Exercise in Heart Failure: A Mini Review
Current Respiratory Medicine Reviews Beta-2 Agonists in Asthma: Medicine or Murderer?
Current Respiratory Medicine Reviews