[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15]

HNO. 2008 Feb;56(2):177-82. doi: 10.1007/s00106-007-1633-6.
[Article in German]


Background: Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 54 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis.

Methods: In this study a German pedigree has been identified segregating a progressive bilateral loss of lower and middle frequencies.

Results: A genome-wide screening and linkage analysis revealed the existence of a new NSSHL locus (DFNA57). The phenotype was mapped to a 10 degrees Mbp interval on chromosome 19p13.2 from 7.8 to 18.2 degrees Mbp, a maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15.

Conclusion: The results underline the heterogeneity of hereditary hearing disorders. Identification of genes can help to reach a better understanding of the molecular mechanism of hearing.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Audiometry, Pure-Tone
  • Child
  • Chromosome Aberrations*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • Female
  • Gene Frequency / genetics
  • Genes, Dominant*
  • Genes, Recessive*
  • Genetic Markers / genetics
  • Genotype
  • Hearing Loss, Bilateral / genetics*
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Otoacoustic Emissions, Spontaneous / genetics
  • Pedigree
  • Phenotype


  • Genetic Markers