Human Genetics

, Volume 89, Issue 3, pp 353–356 | Cite as

Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement

  • Daniel R. Jacobson
  • Dale E. McFarlin
  • Immaculata Kane
  • Joel N. Buxbaum
Short Communications

Summary

Mutations in the protein transthyretin cause amyloidosis involving the heart, peripheral nerves, and other organs. A family from West Virginia developed an unusually aggressive form of widespread transthyretin amyloidosis. Single-strand conformation polymorphism analysis revealed a variant in the transthyretin gene, which was found on sequencing to be a T→C transversion at position 2 of codon 55, corresponding to a Leu→ Pro substitution. The variant sequence was confirmed by restriction analysis and polymerase chain reaction (PCR)-primer introduced restriction analysis.

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Daniel R. Jacobson
    • 1
  • Dale E. McFarlin
    • 2
  • Immaculata Kane
    • 1
  • Joel N. Buxbaum
    • 1
  1. 1.Research Service, New York V. A. Medical Center, and Department of Medicine, New York University School of Medicine, New YorkNew YorkUSA
  2. 2.Neuroimmunology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthBethesdaUSA

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