A NEW TRANSTHYRETIN VARIANT (SER-24) ASSOCIATED WITH FAMILIAL AMYLOIDPOLYNEUROPATHY

An American kindred with systemic amyloidosis presenting with carpal t unnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequen cing and both cytosine and thymine were present at the first base of c odon 24. This new point mutation in exon 2 results in the amino acid s ubstitution of serine for proline in the A-B loop of the transthyretin molecule. DNA testing for this mutant allele by restriction fragment length polymorphism analysis based on the polymerase chain reaction is described.