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

J Genet. 2004 Apr;83(1):35-8. doi: 10.1007/BF02715827.

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 marker DXS6797 (theta = 0.00). Recombinants define a region of 4.3 cM flanked by markers DXS6799 and GATA172D05. This region overlaps the previously reported DFN2 region by 2.0 cM.

MeSH terms

  • Audiometry, Pure-Tone
  • Chromosome Mapping
  • Chromosomes, Human, X
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Heterozygote
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Recombination, Genetic

Substances

  • Genetic Markers