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Refinement of the locus for non-syndromic sensorineural deafness (DFN2) |
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| Authors: | Bin?Cui Haibing?Zhang Yongzhong?Lu Wei?Zhong Gang?Pei Xiangyin?Kong |
| Institution: | (1) Health Science Center, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Second Medical University, 225 South Chong Qing Road, 200025 Shanghai, People’s Republic of China;(2) Shenyang Pharmaceutical University, 103 Wenhua Road, 110016 Shenyang, People’s Republic of China;(3) Qingdao Medical College, Qingdao Obstetrics and Gynecology Hospital, 266003 Qingdao, People’s Republic of China |
| Abstract: | 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. |
| Keywords: | non-syndromic sensorineural deafness (DFN2) profound congenital sensorineural deafness linkage X chromosome |
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