HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

Abstract
Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod scores, Zmax, were 5.57 at a recombination fraction of .05, with D7S488, and 4.74 at a recombination fraction of .05, with D7S493. Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. Analysis of individual recombinants shows that the most likely position is between D7S493 and D7S516. Linkage data in regard of Jackson-Weiss syndrome demonstrate that this autosomal dominant form of acrocephalosyndactyly does not map to the ACS III region on 7p or to the acrocephalosyndactyly locus on 5q (Boston type). These findings underline the genetic heterogeneity among the different clinical conditions manifesting with acrocephalosyndactyly.
AuthorsL van Herwerden, C S Rose, W Reardon, L A Brueton, J Weissenbach, S Malcolm, R M Winter
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 54 Issue 4 Pg. 669-74 (Apr 1994) ISSN: 0002-9297 [Print] United States
PMID8128964 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Acrocephalosyndactylia (genetics)
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 7
  • Craniosynostoses (classification, genetics)
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Sequence Analysis, DNA

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: