A GENE FOR CROUZON CRANIOFACIAL DYSOSTOSIS MAPS TO THE LONG ARM OF CHROMOSOME-10

Crouzon craniofacial dysostosis (CFD) is an autosomal dominant craniof acial disorder characterized by premature craniosynostosis, shallow or bits and hypoplastic maxilla. To map the gene responsible, we have use d a mapping strategy of testing for linkage to known developmental gen es. Analysis of a large kindred established linkage between CFD and th ree loci (D10S190, D10S209 and D10S216) that span a 13 cM region on ch romosome 10q. A maximum pairwise lod score of 4.42 (theta = 0) at D10S 190 was obtained and the addition of a second kindred produced a combi ned pairwise lod score of 5.32 (theta = 0) at the same locus. The deve lopmental gene, PAX2, located within this region, is an attractive can didate gene.