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A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.
Nat Genet. 1994 Jun; 7(2):149-53.NGen

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+Show Affiliations

Preston RA
Department of Pathology, University of Pittsburgh, Pennsylvania 15261.
Post JC
No affiliation info available
Keats BJ
No affiliation info available
Aston CE
No affiliation info available
Ferrell RE
No affiliation info available
Priest J
No affiliation info available
Nouri N
No affiliation info available
Losken HW
No affiliation info available
Morris CA
No affiliation info available
Hurtt MR
No affiliation info available

MeSH

Chromosome MappingChromosomes, Human, Pair 10Craniofacial DysostosisFemaleGenes, DominantGenetic LinkageGenetic MarkersHumansLod ScoreMalePedigreePhenotype

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7920632

Citation

Preston, R A., et al. "A Gene for Crouzon Craniofacial Dysostosis Maps to the Long Arm of Chromosome 10." Nature Genetics, vol. 7, no. 2, 1994, pp. 149-53.
Preston RA, Post JC, Keats BJ, et al. A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nat Genet. 1994;7(2):149-53.
Preston, R. A., Post, J. C., Keats, B. J., Aston, C. E., Ferrell, R. E., Priest, J., Nouri, N., Losken, H. W., Morris, C. A., & Hurtt, M. R. (1994). A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nature Genetics, 7(2), 149-53.
Preston RA, et al. A Gene for Crouzon Craniofacial Dysostosis Maps to the Long Arm of Chromosome 10. Nat Genet. 1994;7(2):149-53. PubMed PMID: 7920632.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. A1 - Preston,R A, AU - Post,J C, AU - Keats,B J, AU - Aston,C E, AU - Ferrell,R E, AU - Priest,J, AU - Nouri,N, AU - Losken,H W, AU - Morris,C A, AU - Hurtt,M R, PY - 1994/6/1/pubmed PY - 1994/6/1/medline PY - 1994/6/1/entrez SP - 149 EP - 53 JF - Nature genetics JO - Nat Genet VL - 7 IS - 2 N2 - 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. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7920632/A_gene_for_Crouzon_craniofacial_dysostosis_maps_to_the_long_arm_of_chromosome_10_ L2 - https://doi.org/10.1038/ng0694-149 DB - PRIME DP - Unbound Medicine ER -