A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity

Genomics. 1991 Dec;11(4):885-94. doi: 10.1016/0888-7543(91)90011-3.

Abstract

A locus for X-linked nonsyndromic deafness has previously been allocated to the Xq13-q21 region based on linkage studies in two separate pedigrees. This has been substantiated by the observation of deafness as a clinical feature of male patients with cytogenetically detectable deletions across this region. The question of a second locus for deafness in this chromosomal region has been raised by the audiologically distinct nature of the deafness in some of the deleted patients compared to that observed in those patients upon whom the linkage data are based. We have performed detailed clinical evaluation and linkage studies on seven pedigrees with nonsyndromic X-linked deafness and conclude that there is evidence for at least two loci for this form of deafness, including one in the Xq13-q21 region. We have observed different radiological features among the pedigrees which map to Xq13-q21, suggesting that even among these pedigrees the deafness is due to different pathological processes. Given these findings, we suggest that the classification of nonsyndromic X-linked deafness based solely on audiological criteria may need to be reviewed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Cochlea / diagnostic imaging
  • DNA Probes
  • Deafness / diagnostic imaging
  • Deafness / genetics*
  • Female
  • Genetic Linkage*
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Sex Chromosome Aberrations / diagnostic imaging
  • Sex Chromosome Aberrations / genetics*
  • Tomography, X-Ray Computed
  • X Chromosome*

Substances

  • DNA Probes