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Surgery may be recommended if a child has a permanent conductive hearing loss caused by malformations of the outer or middle ear, or by repeated ear infections. Although fluid in the middle ear usually results in only temporary hearing loss, chronic ear infection can cause a child to fall behind in language skills. In some cases, a doctor may ...
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 ...
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.
OTOF mutations account for 2% to 8% of cases of congenital deafness, earlier research suggests. One out of every 1,000 children born in the U.S. has moderate to profound hearing loss.
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.
Genetic testing: Genetic testing may be recommended, especially if there is a family history of hearing loss. Nonsyndromic deafness can be caused by mutations in various genes associated with auditory function. Besides, high-throughput DNA sequencing methods can be employed to screen multiple genes simultaneously. [7]
The gene is located on the long arm of chromosome 7 (7q31). [6] [7] Mutations in the same gene also cause enlarged vestibular aqueduct syndrome (EVA or EVAS), another congenital cause of deafness; specific mutations are more likely to cause EVAS, while others are more linked with Pendred syndrome. [8]
While the specific gene and protein is still unknown, mutations in the connexin 26 gene near the DFNB1 locus of chromosome 13 [45] are thought to account for most of the autosomal recessive genetic-related sensorineural hearing loss [44] At least 8.5 per 1000 children younger than age 18 have sensorineural hearing loss.