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

Genomics. 1994 Jan 1;19(1):115-9. doi: 10.1006/geno.1994.1020.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics
  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • Craniosynostoses / classification
  • Craniosynostoses / epidemiology
  • Craniosynostoses / genetics*
  • Genetic Markers
  • Haplotypes / genetics
  • Humans
  • Infant, Newborn
  • Pedigree
  • Phenotype
  • Prevalence
  • Syndrome

Substances

  • Genetic Markers