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Variable disease severity associated with a Paget's disease predisposition gene.

R J Leach1, F R Singer, J D Cody

  • 1Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78284, USA.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|October 6, 1999
PubMed
Summary

Researchers identified a chromosome 18 gene region linked to Paget's disease predisposition. This gene shows variable expression, affecting disease onset and severity in affected individuals.

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Area of Science:

  • Genetics
  • Bone Biology
  • Medical Research

Background:

  • Familial expansile osteolysis (FEO) and Paget's disease share similarities, suggesting a common genetic locus.
  • Previous studies indicated a potential gene for FEO on chromosome 18 long arm.
  • Paget's disease is a chronic disorder affecting bone metabolism.

Purpose of the Study:

  • To identify a predisposition gene for Paget's disease using linkage analysis.
  • To investigate the role of a specific chromosome 18 region in Paget's disease.
  • To explore the variability in disease onset and severity associated with the identified predisposition gene.

Main Methods:

  • Linkage analysis was performed on a large kindred with a high incidence of Paget's disease.
  • Genetic haplotype analysis was used to track the predisposition gene.

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  • Clinical evaluation, including bone scanning and serum alkaline phosphatase levels, was conducted.

    • Main Results:

    • A region on chromosome 18 was identified as carrying a predisposition gene for Paget's disease.
    • The identified gene demonstrated variable expression, with some carriers showing no disease symptoms.
    • Individuals under 30 carrying the affected haplotype showed no evidence of early-onset Paget's disease, indicating highly variable age of onset.

    Conclusions:

    • A specific locus on chromosome 18 is associated with Paget's disease predisposition.
    • The predisposition gene exhibits variable penetrance and expressivity, influencing disease onset and severity.
    • Further research is needed to understand the mechanisms underlying the variable expression of this Paget's disease-associated gene.