Related Experiment Video
Updated: Aug 8, 2026
09:44
Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis
Iris Schrijver1, Phyllis Gardner
1Stanford University School of Medicine, Department of Pathology & Pediatrics, L235, 300 Pasteur Drive, Stanford, CA 94305, USA. ischrijver@stanfordmed.org
Expert Review of Molecular Diagnostics
|May 19, 2006
Summary
Genetic testing for hereditary hearing loss is increasingly important. DNA testing can identify the molecular basis of hearing loss, aiding in diagnosis and management, especially for nonsyndromic forms.
Area of Science:
- Genetics and Audiology
- Molecular Diagnostics
Background:
- The majority of hearing loss cases have a genetic origin, making it a common condition.
- Advances in understanding hearing-related genes and universal newborn hearing screening have increased the need for genetic testing.
Purpose of the Study:
- To review the genetics of hereditary hearing loss.
- To discuss current genetic testing methods for nonsyndromic hearing loss, including their pros and cons.
- To propose a practical algorithm for genetic testing and highlight recent advancements.
Main Methods:
- Literature review of genetic testing assays for hereditary hearing loss.
- Analysis of advantages and limitations of commonly offered genetic tests.
- Development of a proposed genetic testing algorithm.
Main Results:
- Hereditary hearing loss is genetically heterogeneous, particularly in nonsyndromic forms.
- Various gene-specific tests and mutation panels are available for molecular diagnosis.
- A practical testing algorithm can help navigate diagnostic options.
Conclusions:
- Molecular diagnostic assays are crucial for identifying the genetic basis of hearing loss.
- Future tests will offer more comprehensive genetic information, improving patient management.
- Understanding the genetic landscape is key to diagnosing and managing hereditary hearing loss.
Related Concept Videos
01:39Mutations
Overview
01:35Mutations
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
01:39Mutations
Overview
02:46Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:18Mutations in Microorganisms
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...