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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.
The most common type of congenital hearing loss in developed countries is DFNB1, also known as connexin 26 deafness or GJB2-related deafness. The most common dominant syndromic forms of hearing loss include Stickler syndrome and Waardenburg syndrome. The most common recessive syndromic forms of hearing loss are Pendred syndrome and Usher syndrome.
Mutations in this gene have been associated with progressive postlingual hearing loss, non syndromic deafness [15] and profound prelingual deafness. [7] TMC1 mutations are not associated with other symptoms or abnormalities, which is known as Nonsyndromic hearing loss and indicates that TMC1 functions mainly in auditory sensation. [16]
The prevalence of hearing loss due to alterations in the STRC gene is estimated at 1 in 1600. [10] 99% of the genetic alterations in the STRC gene associated with non-syndromic hearing loss involve large copy number variations. Often, the alteration is a large deletion on chromosome 15, including several genes, among them STRC.
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 factors are thought to cause more than 50% of all incidents of congenital hearing loss. Genetic hearing loss may be autosomal dominant, autosomal recessive, or X-linked (related to the sex chromosome).
Transmembrane O-methyltransferase (TOMT) is a protein encoded by the LRTOMT gene in humans. Located on chromosome 11, mutations in LRTOMT are associated with the DFNB63 form of autosomal recessive nonsyndromic hearing loss.
Their 2 rRNA, 22 tRNA and 13 mRNA genes are very useful in phylogenetic studies, in particular the 12S and 16S rRNAs. The 12S rRNA is the mitochondrial homologue of the prokaryotic 16S and eukaryotic nuclear 18S ribosomal RNAs. [4] Mutations in the MT-RNR1 gene may be associated with hearing loss. [5]
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