A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

J Hum Genet. 2002;47(12):635-40. doi: 10.1007/s100380200098.


Hearing impairment is an extremely heterogeneous disorder. A total of 35 loci and 17 related genes for autosomal dominant nonsyndromic hearing loss have been identified. In a Chinese pedigree characterized by autosomal dominant inheritance with bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment, the putative disease gene locus was localized to chromosome 5q31.1-32 by a genome-wide scan. Fine mapping indicated that the disease gene was located within an 8.8-cM region between markers D5S2056 and D5S638, with a maximum two-point logarithm of differences (LOD) score of 6.89 (theta = 0) at D5S2017. By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed. No mutation was found, suggesting that this is a novel deafness locus, which has been named DFNA42.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5 / genetics*
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant / genetics*
  • Genetic Heterogeneity
  • Genetic Markers
  • Haplotypes
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Pedigree
  • Recombination, Genetic


  • Genetic Markers