A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36

Eur J Hum Genet. May-Jun 1998;6(3):245-50. doi: 10.1038/sj.ejhg.5200177.

Abstract

Deafness is the most frequent sensorineural defect in children. The vast majority of the prelingual forms of isolated deafness are highly genetically heterogeneous with an autosomal recessive mode of inheritance. Using linkage analysis, we have mapped the gene responsible for a severe progressive sensorineural hearing loss, DFNB13, segregating in a large consanguineous family living in an isolated region in northern Lebanon. A maximum lod score of 4.5 was detected for markers D7S661-D7S498. Recombination events and homozygosity mapping by descent define a 17 cM gene interval in the chromosome region 7q34-q36, between the markers D7S2468/D7S2505, on the proximal side, and D7S2439, on the distal side.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • Deafness / genetics*
  • Female
  • Genes, Recessive*
  • Genetic Linkage
  • Genotype
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Homozygote
  • Humans
  • Male
  • Pedigree