TY - JOUR
T1 - Genetic Heterogeneity among Craniosynostosis Syndromes
T2 - Mapping the Saethre-Chotzen Syndrome Locus between D7S513 and D7S516 and Exclusion of Jackson-Weiss and Crouzon Syndrome Loci from 7p
AU - Lewanda, Amy Feldman
AU - Cohen, M. Michael
AU - Jackson, Charles E.
AU - Taylor, Eugene W.
AU - Li, Xiang
AU - Beloff, Michelle
AU - Day, Donald
AU - Clarren, Sterling K.
AU - Ortiz, Rosa
AU - Garcia, Constanza
AU - Hauselman, Ellyn
AU - Figueroa, Alvaro
AU - Wulfsberg, Eric
AU - Wilson, Melba
AU - Warman, Matthew L.
AU - Padwa, Bonnie L.
AU - Whiteman, David A H
AU - Mulliken, John B.
AU - Jabs, Ethylin Wang
PY - 1994/1/1
Y1 - 1994/1/1
N2 - 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, θ = 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.
AB - 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, θ = 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.
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U2 - 10.1006/geno.1994.1020
DO - 10.1006/geno.1994.1020
M3 - Article
C2 - 8188211
AN - SCOPUS:0028144604
SN - 0888-7543
VL - 19
SP - 115
EP - 119
JO - Genomics
JF - Genomics
IS - 1
ER -