Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

Hum Genet. 2002 Jan;110(1):64-7. doi: 10.1007/s00439-001-0643-9. Epub 2001 Nov 10.


An Italian family in which Waardenburg syndrome type II (WS2) segregates together with a der(8) chromosome from a (4p;8p) balanced translocation was studied. Cytogenetic analysis by painting and subtelomeric probe hybridization positioned the chromosome 8 breakpoint at p22-pter. Fluorescence in situ hybridization analysis with yeast artificial chromosomes from a contig spanning the 8p21-pter region refined the breakpoint in an interval of less than 170 kb between markers WI-3823 and D8S1819. The only cloned gene for WS2 is that for microphtalmia (MITF) on chromosome 3p. In this family, MITF mutations were excluded by sequencing the whole coding region. The 8p23 region may represent a third locus for WS2 (WS2C).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line, Transformed
  • Chromosome Mapping
  • DNA / blood
  • DNA / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Herpesvirus 4, Human / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Microphthalmia-Associated Transcription Factor
  • Mutation*
  • Pedigree
  • Transcription Factors*
  • Waardenburg Syndrome / genetics*


  • DNA-Binding Proteins
  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor
  • Transcription Factors
  • DNA