title: A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.
abstract: Crouzon craniofacial dysostosis (CFD) is an autosomal dominant craniofacial disorder characterized by premature craniosynostosis, shallow orbits and hypoplastic maxilla. To map the gene responsible, we have used a mapping strategy of testing for linkage to known developmental genes. Analysis of a large kindred established linkage between CFD and three loci (D10S190, D10S209 and D10S216) that span a 13 cM region on chromosome 10q. A maximum pairwise lod score of 4.42 (theta = 0) at D10S190 was obtained and the addition of a second kindred produced a combined pairwise lod score of 5.32 (theta = 0) at the same locus. The developmental gene, PAX2, located within this region, is an attractive candidate gene.
authors.affiliation: Department of Pathology, University of Pittsburgh, Pennsylvania 15261.
authors.forename: R A
authors.initials: RA
authors.lastname: Preston
authors.forename: J C
authors.initials: JC
authors.lastname: Post
authors.forename: B J
authors.initials: BJ
authors.lastname: Keats
authors.forename: C E
authors.initials: CE
authors.lastname: Aston
authors.forename: R E
authors.initials: RE
authors.lastname: Ferrell
authors.forename: J
authors.initials: J
authors.lastname: Priest
authors.forename: N
authors.initials: N
authors.lastname: Nouri
authors.forename: H W
authors.initials: HW
authors.lastname: Losken
authors.forename: C A
authors.initials: CA
authors.lastname: Morris
authors.forename: M R
authors.initials: MR
authors.lastname: Hurtt
mesh_terms: D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D005819:Genetic Markers