TRANSCRIPTIONAL MAP OF THE TREACHER-COLLINS CANDIDATE GENE REGION

Treacher Collins syndrome (TCOFI) is a dominant disorder of craniofaci al development that has been linked previously to a region of chromoso me 5q31.3-32. Identification of recombination events in affected indiv iduals has reduced the candidate gene region to a 0.5-Mb area between the loci RPS14 (proximal) and ANX6 (distal). A transcriptional map of this candidate gene region, generated by analysis of exon amplificatio n clones, has identified the genomic location of four genes, heparan s ulfate-N-sulfotransferase-N-deacetylase, glutathione peroxidase, as we ll as two novel, previously uncharacterized genes. Each of these genes , based on their location, must be considered candidates for TCOFI loc us.