Refinement of the Seathre-Chotzen syndrome locus between D7S664 and D7S507 which flank a translocation breakpoint in an affected individual
- Johns Hopkins Univ., Baltimore, MD (United States)
- Johns Hopkins Univ., Baltimore, MD (United States); and others
Saethre-Chotzen syndrome (SCS) is a common autosomal dominant craniosynostosis disorder that has been mapped to distal chromosome 7p. In addition to craniosynostosis, patients with SCS have facial asymmetry, low frontal hairline, ptosis, deviated nasal septum, brachydactyly, and partial cutaneous syndactyly. We evaluated 66 individuals in 10 SCS families. Linkage analysis was performed with 11 dinucleotide repeat markers between D7S513 and D7S516, spanning a genetic distance of 27 cM. The tightest linkage was to marker D7S664 (Z = 7.16, {theta} = 0.00), with a confidence interval of 8 cM. Haplotype analysis of those families with informative recombination events showed the disease locus to lie within the 12 cM region between markers D7S513 and D7S507. We used FISH to physically map the gene using chromosome spreads from the SCS patient with t(2;7)(p23;p22) reported by Reid et al. and YAC clones from a contig spanning the critical interval. These studies confirmed that the breakpoint lies within this region, and in fact identified a microdeletion. Further studies will be targeted towards identification of candidate genes for Saethre-Chotzen syndrome.
- OSTI ID:
- 134059
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0795
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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