Portuguese-type amyloidosis is an autosomal dominant condition caused by a point mutation of the prealbumin (transthyretin) gene. The mutation can be detected directly by the presence of a restriction site for Nsi1. We report the first prenatal diagnosis for this condition, performed in the first trimester by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.
- chorionic villus sampling
- familial amyloidotic polyneuropathy
- polymerase chain reaction
- prenatal diagnosis
ASJC Scopus subject areas