Affected

• An individual with a given condition or diagnosis presenting with symptoms 

Allele

• Variant/alternate form of a gene at a specific locus 

Aminoglycosides

• Widely used antibiotics known to have hearing loss as a side effect

Audiogram

• A graph that shows the softest sounds a person can hear at different pitches and frequencies

 

Autosomal dominant

• 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

Autosomal recessive

• 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

Autosome

• A non-sex chromosome: in the human body there are 22 pairs of autosomes (44 total autosomes)

Benign

• A variant that does not cause disease

Carrier

• An individual who carries only one recessive allele for a genetic trait
   

Chromosome

• A structure made from DNA; each cell in the human body contains 46 chromosomes (23 pairs)

Cochlea

• 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

Congenital

• Present at birth 

Copy number variations (CNV)

• Variation in the number of copies of a particular sequence of DNA in an individual

De novo

• Mutation or alteration of genetic material that was not inherited from either parent but arose spontaneously in early development

Deletion

• Loss of genetic information/material 

Depth of coverage

• The number of times a specific base (nucleotide) in DNA is read during sequencing

Dominant

• Only one mutant allele is required for the genetic trait to be expressed

Duplication

• Duplicate copy of genetic information/material 

Ear drum/tympanic membrane

• 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

Empiric risk

• The likelihood of a trait or disorder occurring in a family, based on observed data from similar families

 

Epigenetics

• 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

Etiology

• Cause of disease 

Exon

• The part of the gene that encodes for a protein, the "active" part of the gene 

Familial

• 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

Gene

• A unit of hereditary information that determines characteristics of offspring

Genetic counseling

• 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

Genetic predisposition

• An increased likelihood of an individual developing a particular trait or condition based on genetic alterations

Genetic testing

• Analysis of genetic material of an individual to identify genetic alterations, diagnose genetic conditions, and guide treatment or management decisions

Genome

• The entirety of genetic information of an organism

Genomic region

• A specific area or segment of the genome

Genotype

• The genetic makeup of an individual, referring to the specific set of alleles they possess at a particular gene

Heterozygote (Het)

• Two different alleles at a locus 

Inherit

• To receive genetic material from biological parents

Likely benign

• A variant that is not likely to be disease-causing 

Likely pathogenic

• A variant that is likely to be disease-causing, but additional data may be needed to confirm its impact

Likely pathogenic carrier

• An individual who possesses a genetic variant that is probably disease-causing but is not showing symptoms of the condition

Locus

• A specific location on a chromosome where a particular gene or genetic marker is found

Loss of function allele

• A variant of a gene that results in a reduction or complete loss of the gene’s normal activity or function

Meniere's disease

• A rare inner ear condition that affects balance and hearing

Modifier

• Genetic variants that can enhance or reduce the impact of a primary genetic mutation or condition

Mutation

• A change in the DNA sequence that can affect how a gene functions, sometimes resulting in symptoms or disease

Non syndromic hearing loss

• Genetic hearing loss not associated with other health symptoms

Nucleotide

• The building block of DNA and RNA that are linked together to form long chains of nucleic acids that carry genetic information

Null

• A genetic variant or allele that typically leads to a total loss of a gene’s normal activity

Otolaryngologist

• Healthcare provider that specializes in ear, nose, and throat (ENT) and head and neck diseases

Outbred population frequency

• The proportion of individuals in a genetically diverse population who carry a specific genetic variant or trait.

Pathogenic

• A variant that is disease-causing

Pathogenic carrier

• An individual who possesses a genetic variant that is disease-causing but is not showing symptoms of the condition

Pathway

• A series of steps where genes work together to perform biological functions in a cell

Pedigree

• Commonly known as a family tree, this diagram shows the occurrence and inheritance of genetic traits within a family over multiple generations
   

Phenotype

• The physical and observable characteristics and symptoms related to a disease or condition

Primary Variant

• The genetic mutation or change identified in a patient that is believed to be the direct cause of a genetic condition

Profound hearing loss

• 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

Protein function

• The specific role or activity performed by a protein

Recessive

• Two mutant alleles are required for the genetic trait or condition to be expressed 

Sensorineural hearing loss

• A type of hearing loss caused by damage to the inner ear (cochlea) or the auditory nerve pathways

Sex-linked trait

• A genetic trait associated with genes located on the sex chromosomes (X and Y)

Single nucleotide variants (SNV)

• Changes in a single nucleotide base in the DNA sequence that can impact gene function, contribute to diseases, or be neutral

Synonymous variant

• A.K.A. "a silent allele", a change in the DNA that does not result in a change in the protein 

Unaffected

• A person that does not present with any symptoms of a given disease/disorder

Vestibular system

• A sensory system located in the inner ear that helps maintain balance and spatial orientation

Wildtype

• The "typical" (non-mutated version) of a gene or allele

Zygosity

• The similarity or difference in alleles at a specific gene locus in an individual