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.
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Authors | R A Preston, J C Post, B J Keats, C E Aston, R E Ferrell, J Priest, N Nouri, H W Losken, C A Morris, M R Hurtt |
Journal | Nature genetics
(Nat Genet)
Vol. 7
Issue 2
Pg. 149-53
(Jun 1994)
ISSN: 1061-4036 [Print] United States |
PMID | 7920632
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
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Topics |
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Craniofacial Dysostosis
(genetics, pathology)
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Humans
- Lod Score
- Male
- Pedigree
- Phenotype
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