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Hereditary hearing loss
Make it clearer
Hereditary hearing loss is loss of hearing that runs in the genes. It is not an uncommon problem: genetics accounts for half of all cases of hearing loss.
It splits into two large groups. Seventy percent is nonsyndromic, meaning the ear is the only thing affected, and there the most common pattern is autosomal recessive inheritance, in which both copies of the gene have to be altered for it to appear. The other 30% is syndromic: the deafness comes along with other findings as part of a syndrome.
Among the recessive nonsyndromic forms, the most frequent locus, meaning the site in the genome, is connexin 26. Connexins are proteins that cross the cell membrane, which is why they are called transmembrane, and they form gap junctions. Connexins are little windows that connect one cell to the one next door.
In brief
Hereditary hearing loss is hearing loss of genetic origin, and genetics accounts for half of all cases of hearing loss.
Seventy percent is nonsyndromic, with no other organs affected, and there autosomal recessive inheritance is the most common; the other 30% is part of a syndrome.
Connexin 26 is the most frequent nonsyndromic recessive locus, and connexins are transmembrane proteins that connect neighboring cells through gap junctions.
Connexins are little windows that connect one cell to the one next door.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingGenetic Hearing Loss, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated