Hearing Loss Glossary and Key Terms
- An individual with a given condition or diagnosis presenting with symptoms
- Variant/alternate form of a gene at a specific locus
- Widely used antibiotics known to have hearing loss as a side effect
- A graph that shows the softest sounds a person can hear at different pitches and frequencies
- A genetic pattern where a trait or disorder is expressed if only one copy of the altered gene is present. Each child of an affected parent has a 50% chance of inheriting the condition
- A genetic pattern where a trait or disorder is expressed only if an individual inherits two copies of the altered gene, one from each parent. Parents of an affected individual are usually carriers, each with one copy of the altered gene, and have a 25% chance of passing the condition to each child
- A non-sex chromosome: in the human body there are 22 pairs of autosomes (44 total autosomes)
- A variant that does not cause disease
- An individual who carries only one recessive allele for a genetic trait
- A structure made from DNA; each cell in the human body contains 46 chromosomes (23 pairs)
- A spiral-shaped, fluid-filled structure in the inner ear responsible for converting sound vibrations into nerve impulses. It plays a crucial role in hearing by housing the sensory cells that detect sound
- Present at birth
- Variation in the number of copies of a particular sequence of DNA in an individual
- Mutation or alteration of genetic material that was not inherited from either parent but arose spontaneously in early development
- Loss of genetic information/material
- The number of times a specific base (nucleotide) in DNA is read during sequencing
- Only one mutant allele is required for the genetic trait to be expressed
- Duplicate copy of genetic information/material
- A thin, cone-shaped membrane that separates the outer ear from the middle ear and vibrates in response to sound waves. It plays a key role in transmitting sound from the air to the tiny bones in the middle ear
- The likelihood of a trait or disorder occurring in a family, based on observed data from similar families
- The study of changes in gene expression or activity that do not involve alterations to the DNA sequence. These changes can be influenced by environmental factors and can be inherited across generations
- Cause of disease
- The part of the gene that encodes for a protein, the "active" part of the gene
- Referring to traits or conditions that are observed to occur more frequently in family members than would be expected by chance, often implying a genetic component
- A unit of hereditary information that determines characteristics of offspring
- A process where professionals provide information and support to individuals/families about genetic conditions. It involves assessing genetic risks, discussing testing options, interpreting results, and helping with decision-making
- An increased likelihood of an individual developing a particular trait or condition based on genetic alterations
- Analysis of genetic material of an individual to identify genetic alterations, diagnose genetic conditions, and guide treatment or management decisions
- The entirety of genetic information of an organism
- A specific area or segment of the genome
- The genetic makeup of an individual, referring to the specific set of alleles they possess at a particular gene
- Two different alleles at a locus
- To receive genetic material from biological parents
- A variant that is not likely to be disease-causing
- A variant that is likely to be disease-causing, but additional data may be needed to confirm its impact
- An individual who possesses a genetic variant that is probably disease-causing but is not showing symptoms of the condition
- A specific location on a chromosome where a particular gene or genetic marker is found
- A variant of a gene that results in a reduction or complete loss of the gene’s normal activity or function
- A rare inner ear condition that affects balance and hearing
- Genetic variants that can enhance or reduce the impact of a primary genetic mutation or condition
- A change in the DNA sequence that can affect how a gene functions, sometimes resulting in symptoms or disease
- Genetic hearing loss not associated with other health symptoms
- The building block of DNA and RNA that are linked together to form long chains of nucleic acids that carry genetic information
- A genetic variant or allele that typically leads to a total loss of a gene’s normal activity
- Healthcare provider that specializes in ear, nose, and throat (ENT) and head and neck diseases
- The proportion of individuals in a genetically diverse population who carry a specific genetic variant or trait.
- A variant that is disease-causing
- An individual who possesses a genetic variant that is disease-causing but is not showing symptoms of the condition
- A series of steps where genes work together to perform biological functions in a cell
- Commonly known as a family tree, this diagram shows the occurrence and inheritance of genetic traits within a family over multiple generations
- The physical and observable characteristics and symptoms related to a disease or condition
- The genetic mutation or change identified in a patient that is believed to be the direct cause of a genetic condition
- A level of hearing loss where an individual has little to no hearing ability, typically defined as having a hearing threshold greater than 90 decibels
- The specific role or activity performed by a protein
- Two mutant alleles are required for the genetic trait or condition to be expressed
- A type of hearing loss caused by damage to the inner ear (cochlea) or the auditory nerve pathways
- A genetic trait associated with genes located on the sex chromosomes (X and Y)
- Changes in a single nucleotide base in the DNA sequence that can impact gene function, contribute to diseases, or be neutral
- A.K.A. "a silent allele", a change in the DNA that does not result in a change in the protein
- A person that does not present with any symptoms of a given disease/disorder
- A sensory system located in the inner ear that helps maintain balance and spatial orientation
- The "typical" (non-mutated version) of a gene or allele
- The similarity or difference in alleles at a specific gene locus in an individual