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

Journal Article · Sat Jan 01 04:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1020· OSTI ID:6588777

Lewanda, A F; Taylor, E W; Li, Xiang; Beloff, M ^[1]; Cohen, Jr, M M ^[2]; Jackson, C E ^[3]; Day, D ^[4]; Clarren, S K ^[5]; Ortiz, R; Garcia, C ^[6]

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1. Johns Hopkins School of Medicine, Baltimore, MD (United States)
2. Dalhousie Univ., Nova Scotia (Canada)
3. Henry Ford Hospital, Detroit, MI (United States)
4. Texas Dept. of Health, Denton, TX (United States)
5. Univ. of Washington School of Medicine, Seattle, WA (United States)
6. Hospital Infantil de Mexico, Distrito Federal (Mexico); and others

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., the Greig cephalopolysyndactyly gene was identified at 7p13 by A. Vortkamp et al., and many cases of craniosynostosis have been associated with 7p deletions. The authors confirmed linkage of the Saethre-Chotzen syndrome locus to chromosome 7p. The tightest linkage was to locus D7S493 (7 = 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. 29 refs., 1 fig., 2 tabs.

• OSTI ID: 6588777
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 19:1; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
CHROMOSOMES
CONGENITAL MALFORMATIONS
DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 7
HUMAN CHROMOSOMES
MALFORMATIONS
MAPPING
ORGANS
PATHOLOGICAL CHANGES
SKELETON
SKULL