Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
- K. Kurima, L. M. Peters, A. Griffith
- Biology, MedicineNature Genetics
- 19 February 2002
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
- Z. Ahmed, R. Goodyear, T. Friedman
- BiologyJournal of Neuroscience
- 28 June 2006
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.
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
- I. Belyantseva, E. Boger, T. Friedman
- BiologyNature Cell Biology
- 1 February 2005
It is demonstrated that if green fluorescent protein (GFP)-Myo15a is transfected into hair cells of Myo15ash2 mice, the wild-type pattern of hair bundles is restored by recruitment of endogenous whirlin to the tips of stereocilia.
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
- Z. Ahmed, S. Riazuddin, E. Wilcox
- Biology, MedicineHuman Molecular Genetics
- 15 December 2003
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.
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.
- A. Lagziel, Z. Ahmed, Julie M. Schultz, R. Morell, I. Belyantseva, T. Friedman
- BiologyDevelopmental Biology
- 15 April 2005
Tricellulin is a tight-junction protein necessary for hearing.
- S. Riazuddin, Z. Ahmed, T. Friedman
- BiologyAmerican Journal of Human Genetics
- 1 December 2006
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.
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
- Z. Ahmed, Tenesha N. Smith, E. Wilcox
- Biology, MedicineHuman Genetics
- 3 May 2002
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.
- A. Rehman, R. Morell, T. Friedman
- BiologyAmerican Journal of Human Genetics
- 12 March 2010
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
- G. Borck, Atteeq Ur Rehman, C. Kubisch
- BiologyAmerican Journal of Human Genetics
- 11 February 2011
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