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

Abstract

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.

• Authors: A E Hughes, V E Newton, X Z Liu, A P Read
• Journal: Nature genetics (Nat Genet) Vol. 7 Issue 4 Pg. 509-12 (Aug 1994) ISSN: 1061-4036 [Print] United States
• PMID: 7951321 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Satellite
• Genetic Markers

Topics

• 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, genetics)