title: Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.
abstract: Saethre-Chotzen, Crouzon, and Jackson-Weiss syndromes are craniosynostotic autosomal dominant conditions with a wide variability in expression. Saethre-Chotzen has been mapped to chromosome 7p by L. A. Brueton et al. (1992, J. Med. Genet. 29: 681-685), the Greig cephalopolysyndactyly gene was identified at 7p13 by A. Vortkamp et al. (1991, Nature 352: 539-540), and many cases of craniosynostosis have been associated with 7p deletions. We confirmed linkage of the Saethre-Chotzen syndrome locus to chromosome 7p. The tightest linkage was to locus D7S493 (Z = 5.04, theta = 0.00), and linkage and haplotype analyses refined the location of the gene to the region between D7S513 and D7S516. Jackson-Weiss and Crouzon syndrome loci were analyzed using markers spanning the entire 7p arm and were excluded, proving that they are nonallelic to Saethre-Chotzen, Greig cephalopolysyndactyly, and the del(7p) syndromes.
authors.affiliation: Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland.
authors.forename: A F
authors.initials: AF
authors.lastname: Lewanda
authors.forename: M M
authors.initials: MM
authors.lastname: Cohen
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: E W
authors.initials: EW
authors.lastname: Taylor
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: M
authors.initials: M
authors.lastname: Beloff
authors.forename: D
authors.initials: D
authors.lastname: Day
authors.forename: S K
authors.initials: SK
authors.lastname: Clarren
authors.forename: R
authors.initials: R
authors.lastname: Ortiz
authors.forename: C
authors.initials: C
authors.lastname: Garcia
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000453:epidemiology / Q000235:genetics; D000483:Alleles; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003398:Craniosynostoses / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D013577:Syndrome
chemical_list: D005819:Genetic Markers