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Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
A locus for dominant deafness is reported, DFNA36, which maps to human chromosome 9q13–21 in a region overlapping the DFNB7/B11 locusfor recessive deafness, and eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), are identified.
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15
The tip-link antigen is identified as an avian ortholog of human protocadherin-15, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye.
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
It is reported that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15, and the results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function.
Tricellulin is a tight-junction protein necessary for hearing.
It is shown that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells.
Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
It is concluded that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.
Mutations of MYO6 are associated with recessive deafness, DFNB37.
In families with recessively inherited deafness, DFNB37, sequence analyses of MYO6 reveal a frameshift mutation, a nonsense mutation, and a missense allele linked to autosomal dominant progressive hearing loss, which provide an allelic spectrum that probes the relationship between myosin VI dysfunction and the resulting phenotype.
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating…
The molecular genetics of Usher syndrome
Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the hallmark of Usher syndrome and involves at least 12 loci among three…