Refinement of the locus for non-syndromic sensorineural deafness (DFN2)
- 29 Downloads
Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital profound sensorineural hearing loss. All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2). A maximum two-point Lod score of 2.32 was obtained at markerDXS6797 (θ = 0.00). Recombinants define a region of 4.3 cm flanked by markersDXS6799 andGATA172D05. This region overlaps the previously reported DFN2 region by 2.0 cm.
Keywordsnon-syndromic sensorineural deafness (DFN2) profound congenital sensorineural deafness linkage X chromosome
Unable to display preview. Download preview PDF.
- Cohen M. M. and Gorlin R. J. 1995 Epidemiology, etiology, and genetic patterns. InHereditary hearing loss and its syndromes (eds. R. J. Gorlin, H. V. Toriello and M. M. Cohen), pp. 9–21. Oxford University Press, Oxford.Google Scholar
- Gorlin R. J. 1995 Genetic hearing loss with no associated abnormalities. InHereditary hearing loss and its syndromes (eds. R. J. Gorlin, H. V. Toriello and M. M. Cohen), pp. 43–61. Oxford University Press, Oxford.Google Scholar