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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.
Molecular genetic Testing determines that FGF3 is the only gene whose mutation can cause congenital deafness with Michel aplasia, microdontia and microtia. Carrier testing for at-risk relatives requires identification of mutations which are responsible for occurrence of disease in the family.
Many genes related to deafness are involved in the development and function of the inner ear. Gene mutations interfere with critical steps in processing sound, resulting in hearing loss. Different mutations in the same gene can cause different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic deafness.
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.
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 ...
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 ...
Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity [2] that was first described by Amin J. Barakat et al. in 1977. [3]
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.