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 (θ = 0) at D10S190 was obtained and the addition of a second kindred produced a combined pain/vise lod score of 5.32 (θ = 0) at the same locus. The developmental gene, PAX2, located within this region, is an attractive candidate gene.
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Preston, R., Post, J., Keats, B. et al. A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nat Genet 7, 149–153 (1994). https://doi.org/10.1038/ng0694-149
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DOI: https://doi.org/10.1038/ng0694-149
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