Display Settings:


Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Nat Genet. 1996 Feb;12(2):130-6.

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.

[No authors listed]


Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32-33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned.

Comment on

  • What's in a face? [Nat Genet. 1996]
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Write to the Help Desk