Refinement of the locus for non-syndromic sensorineural deafness (DFN2)
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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
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