Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Am J Med Genet A. 2005 Feb 15;133A(1):23-6. doi: 10.1002/ajmg.a.30516.


Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for approximately 75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three-unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence-based physical map.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 18 / genetics*
  • Deafness / genetics*
  • Deafness / pathology
  • Female
  • Genes, Recessive / genetics*
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree