Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family

Cytogenet Cell Genet. 1998;82(1-2):126-30. doi: 10.1159/000015086.

Abstract

A four-generation family suffering from an autosomal-dominant, congenital, nonprogressive, nonsyndromic hearing loss was found in a rural region of Austria. The hearing loss was moderate to severe, a pure tone audiogram showing a U-shaped form with maximum loss at 2, 000 Hz. An initial genome search led to a lod score of 3.01 with markers on chromosome 15. This locus was registered as DFNA8 in the HUGO data base. Further sampling of the family, however, yielded data that reduced the maximal lod score with chromosome 15 markers to 1.81. The genome search was restarted using an ABITM genotyper, which eventually detected several positive two-point lod scores with markers from the long arm of chromosome 11. The highest value was 3. 6, which was seen with the marker D11S934. Haplotype analysis excluded the gene from the chromosomal region proximal from D11S898 and distal to D11S1309. These results place the gene in the region of the hearing loss gene DFNA12. Recent evidence suggests that the somewhat different phenotypes found in these two families are due to two different mutations in the human alpha-tectorine gene (Verhoeven et al., 1998).

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Austria
  • Chromosomes, Human, Pair 11*
  • Extracellular Matrix Proteins / genetics*
  • Family Health
  • GPI-Linked Proteins
  • Genes, Dominant*
  • Genetic Linkage*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Tests
  • Humans
  • Membrane Glycoproteins / genetics*
  • Pedigree

Substances

  • Extracellular Matrix Proteins
  • GPI-Linked Proteins
  • Membrane Glycoproteins
  • TECTA protein, human