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      https://www.ias.ac.in/article/fulltext/jgen/083/01/0035-0038

    • Keywords

       

      non-syndromic sensorineural deafness (DFN2); profound congenital sensorineural deafness; linkage; X chromosome

    • 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.

    • Author Affiliations

       

      Bin Cui Haibing Zhang1 Yongzhong Lu2 Wei Zhong1 Gang Pei1 3 Xiangyin Kong1 Landian Hu1

      1. Health Science Center, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Second Medical University, 225 South Chong Qing Road, Shanghai - 200025, People’s Republic of China
      2. Qingdao Medical College, Qingdao Obstetrics and Gynecology Hospital, Qingdao - 266003, People’s Republic of China
      3. Shenyang Pharmaceutical University, 103 Wenhua Road, Shenyang - 110016, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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