A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22

Hum Mol Genet. 1996 Sep;5(9):1383-7. doi: 10.1093/hmg/5.9.1383.

Abstract

Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two loci have been mapped. Here we report a Spanish family affected by a previously undescribed X-linked form of hearing impairment. Deafness is non-syndromic, sensorineural, and progressive. In affected males, the auditory impairment is first detected at school age, affecting mainly the high frequencies. Later it evolves to become severe to profound, involving all frequencies for adulthood. Carrier females manifest a moderate hearing impairment in the high frequencies, with the onset delayed to the fourth decade of life. Deafness was assumed to be X-linked dominant, with incomplete penetrance and variable expressivity in carrier females. The family was genotyped for a set of microsatellite markers evenly spaced at intervals of about 10 cM. We found evidence of linkage to markers in the Xp22 region (maximum lod score of 5.30 at theta = 0.000 for DXS8036 and for DXS8022). The position of the novel deafness locus (DFN6) was refined by haplotype analysis. Mapping of the breakpoints in two critical recombinants allowed us to define an interval for DFN6, delimited by DXS7108 on the distal side and by DXS7105 on the proximal side, and spanning a genetic distance of about 15 cM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Audiometry, Pure-Tone
  • Chromosome Mapping
  • Deafness / genetics*
  • Female
  • Genetic Linkage
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Spain
  • X Chromosome / genetics*