A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-06

AUTHORS

Robert A. Preston, J. Christopher Post, Bronya J.B. Keats, Christopher E. Aston, Robert E. Ferrell, Janice Priest, Nassim Nouri, H. Wolfgang Losken, Colleen A. Morris, Mark R. Hurtt, John J. Mulvihill, Garth D. Ehrlich

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. More... »

PAGES

149-153

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0694-149

DOI

http://dx.doi.org/10.1038/ng0694-149

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1038813886

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7920632


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