Genetic Hearing Loss and TMPRSS3 Gene Glossary
Terms you should know when utilizing this TMPRSS3 Hearing Loss Resource.
Autosomal recessive: Happens in childhood when parents each pass down a copy of that gene that caused deafness
Cochlea: The spiral cavity of the inner ear containing the organ of Corti, which produces nerve impulses in response to sound vibrations.
Cochlear Implant: A cochlear implant is a surgically implanted neuroprosthesis that provides a person who has moderate-to-profound sensorineural hearing loss with sound perception. With the help of therapy, cochlear implants may allow for speech understanding.
Congenital: Present from birth.
Degenerative: Characterized by progressive, often irreversible deterioration, and loss of function in the organs or tissues.
DFNB-8: A TMPRSS3 mutation that typically causes a post lingual (after speech) high-frequency/sloping hearing loss, with slow deterioration of the remaining hearing.
DFNB-10: A TMPRSS3 mutation that is congenital and causes profound hearing loss at birth.
EAS: Electric acoustic stimulation (EAS)
Mutation: The changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.
Non-syndromic: Non-syndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms.
Post-lingual: After language development
Serine Protease: Enzymes that split peptide bonds in proteins.
Spiral Ganglion Neuron: Group of neuron cell bodies in the cochlea's inner and outer hair cells.
TMPRSS3: (Transmembrane Serine Protease 3) is a Protein Coding gene that often impacts deafness.
Variant: An alteration in the most common DNA nucleotide sequence.