Short Communications

Human Genetics

, Volume 89, Issue 3, pp 353-356

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

  • Daniel R. JacobsonAffiliated withResearch Service, New York V. A. Medical Center, and Department of Medicine, New York University School of Medicine, New York
  • , Dale E. McFarlinAffiliated withNeuroimmunology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health
  • , Immaculata KaneAffiliated withResearch Service, New York V. A. Medical Center, and Department of Medicine, New York University School of Medicine, New York
  • , Joel N. BuxbaumAffiliated withResearch Service, New York V. A. Medical Center, and Department of Medicine, New York University School of Medicine, New York

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.