Abstract
Hereditary hearing impairment (HHI) is a heterogeneous class of disorders showing various patterns of inheritance and involving a multitude of different genes. Neurosensory hearing impairment is one of the most common human sensory disorders affecting one in 1000 children with at least 60% of cases being inherited. The mode of inheritance of non-syndromic hearing disorders can be assigned to autosomal dominant (10-15%), autosomal recessive (70%), X-linked (1-3%) and mitochondrial forms (6-37% out of all cases). Syndromal hearing defects are categorized according to the underlying defects and contain more than 700 syndromes. In daily practice, non-syndromic hearing impairment (NSHL) is predominant and accounts for up to 70% of all inherited sensorineural hearing defects. Although our knowledge of genes being involved in the development of HI accumulated during the past five years, little is known about the molecular basis of normal auditory function. To date, 24 genes for non syndromic HI and an even larger number of genes for syndromic HI have been identified. These genes play important roles for the normal inner ear: in the development, structure, ion exchange and further physiological function. This review presents a summary of known genes and new candidates, their possible role and the current state of knowledge in genetics of hereditary hearing impairment, all of them possibly expected to allow for new concepts in therapy.
Keywords: hereditary hearing impairment (hhi), non-syndromic, syndromic, development, ion exchange, structure, inner ear physiologogy
Current Genomics
Title: Genes Involved in Hereditary Hearing Impairment
Volume: 4 Issue: 5
Author(s): B. Haack, M. Pfister, N. Blin and S. Kupka
Affiliation:
Keywords: hereditary hearing impairment (hhi), non-syndromic, syndromic, development, ion exchange, structure, inner ear physiologogy
Abstract: Hereditary hearing impairment (HHI) is a heterogeneous class of disorders showing various patterns of inheritance and involving a multitude of different genes. Neurosensory hearing impairment is one of the most common human sensory disorders affecting one in 1000 children with at least 60% of cases being inherited. The mode of inheritance of non-syndromic hearing disorders can be assigned to autosomal dominant (10-15%), autosomal recessive (70%), X-linked (1-3%) and mitochondrial forms (6-37% out of all cases). Syndromal hearing defects are categorized according to the underlying defects and contain more than 700 syndromes. In daily practice, non-syndromic hearing impairment (NSHL) is predominant and accounts for up to 70% of all inherited sensorineural hearing defects. Although our knowledge of genes being involved in the development of HI accumulated during the past five years, little is known about the molecular basis of normal auditory function. To date, 24 genes for non syndromic HI and an even larger number of genes for syndromic HI have been identified. These genes play important roles for the normal inner ear: in the development, structure, ion exchange and further physiological function. This review presents a summary of known genes and new candidates, their possible role and the current state of knowledge in genetics of hereditary hearing impairment, all of them possibly expected to allow for new concepts in therapy.
Export Options
About this article
Cite this article as:
Haack B., Pfister M., Blin N. and Kupka S., Genes Involved in Hereditary Hearing Impairment, Current Genomics 2003; 4 (5) . https://dx.doi.org/10.2174/1389202033490321
DOI https://dx.doi.org/10.2174/1389202033490321 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Related Journals
- 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
- Announcements
Related Articles
-
Cardiac Resynchronization Therapy in Children
Current Cardiology Reviews How to Target Activated Ras Proteins: Direct Inhibition vs. Induced Mislocalization
Mini-Reviews in Medicinal Chemistry Proteomics and Cardiovascular Disease: An Update
Current Medicinal Chemistry Potential Application of Non-flavonoid Phenolics in Diabetes: Antiinflammatory Effects
Current Medicinal Chemistry Trypanosomatid Parasites Causing Neglected Diseases
Current Medicinal Chemistry Adeno-associated Viral Vectors for Correction of Inborn Errors of Metabolism: Progressing Towards Clinical Application
Current Pharmaceutical Design Acute Physical Stress Increases Serum Levels of Specific microRNAs
MicroRNA Obesity and Pregnancy
Current Women`s Health Reviews Conduction Disorders: The Value of Surface ECG
Current Cardiology Reviews Natural Alkaloids and Diabetes Mellitus: A Review
Endocrine, Metabolic & Immune Disorders - Drug Targets New Electrocardiographic Features in Brugada Syndrome
Current Cardiology Reviews Cardiovascular Complications of HIV Infection and Treatment
Cardiovascular & Hematological Agents in Medicinal Chemistry Stem Cell Based Preclinical Drug Development and Toxicity Prediction
Current Pharmaceutical Design Redox-Driven Events in the Human Immunodeficiency Virus Type 1 (HIV-1) Infection and their Clinical Implications
Current HIV Research Oxidative Stress and Lipid Peroxidation in Prolonged Users of Methamphetamine
Drug Metabolism Letters Diagnosis and Prognosis of Fetal Cardiomyopathies: A Review
Current Pharmaceutical Design Therapeutic Potential of Cannabinoids in the Treatment of Neuroinflammation Associated with Parkinsons Disease
Mini-Reviews in Medicinal Chemistry Endothelin-1 and Endothelin Converting Enzyme-1 in Human Atherosclerosis - Novel Targets for Pharmacotherapy in Atherosclerosis
Current Vascular Pharmacology A Review of Maternal and Fetal Growth Factors in Diabetic Pregnancy
Current Diabetes Reviews Cardiovascular Effects of Losartan and Its Relevant Clinical Application
Current Medicinal Chemistry