A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1

Nat Genet. 1994 Aug;7(4):509-12. doi: 10.1038/ng0894-509.


Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a group of microsatellite markers located on chromosome 3p12-p14.1. D3S1261 gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. In a second, smaller family the adjacent marker D3S1210 gave a lod of 2.05 at zero recombination. Interestingly, the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3-p14.4.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • DNA, Satellite / genetics
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Mice
  • Microphthalmos / genetics*
  • Pedigree
  • Waardenburg Syndrome / classification
  • Waardenburg Syndrome / genetics*


  • DNA, Satellite
  • Genetic Markers