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

Amy Feldman Lewanda, M. Michael Cohen, Charles E. Jackson, Eugene W. Taylor, Xiang Li, Michelle Beloff, Donald Day, Sterling K. Clarren, Rosa Ortiz, Constanza Garcia, Ellyn Hauselman, Alvaro Figueroa, Eric Wulfsberg, Melba Wilson, Matthew L. Warman, Bonnie L. Padwa, David A H Whiteman, John B. Mulliken, Ethylin Wang Jabs

Research output: Contribution to journalArticlepeer-review

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, 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.

Original languageEnglish (US)
Pages (from-to)115-119
Number of pages5
JournalGenomics
Volume19
Issue number1
DOIs
StatePublished - Jan 1 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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