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In X-linked hearing loss, the mother carries the recessive trait for hearing loss on the sex chromosome. She can pass on the trait to male and female children, but usually only male children are affected. There are some genetic syndromes, in which hearing loss is one of the known characteristics.
Michel aplasia, also known as complete labyrinthine aplasia (CLA), is a congenital abnormality of the inner ear. It is characterized by the bilateral absence of differentiated inner ear structures and results in complete deafness (anacusis). Michel aplasia should not be confused with michel dysplasia. [ 1 ] It may affect one or both ears.
Mitochondrial mutations causing deafness are rare: MT-TL1 mutations cause MIDD (Maternally inherited deafness and diabetes) and other conditions which may include deafness as part of the picture. TMPRSS3 gene was identified by its association with both congenital and childhood onset autosomal recessive deafness.
Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness). [7] One fairly common mutation is the deletion of one guanine from a string of six, resulting in a frameshift and termination of the protein at amino acid number 13. Having ...
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Nonsyndromic deafness constitutes 75% of all hearing loss cases, and an estimated 100 genes are thought to be linked to this condition.
Specialty. Ophthalmology. Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [ 1 ] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is ...
Wolfram syndrome. Wolfram syndrome, also called DIDMOAD (d iabetes i nsipidus, d iabetes m ellitus, o ptic a trophy, and d eafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
A mutation in a single copy of EDNRB, however, as in Waardenburg syndrome type 4A, produces the patchy white overo coat with deafness. [ 58 ] Ferrets with Waardenburg syndrome have a small white stripe along the top or back of the head and sometimes down the back of the neck (known as a "blaze" coat pattern), or a solid-white head from nose to ...