Prenatal diagnosis of hereditary amyloidosis in a Portuguese family.
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 Nsil. 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.
Morris
M
M
University Institute of Medical Genetics, Department of Paediatrics and Medical Genetics, Geneva, Switzerland.
Nichols
W
W
Benson
M
M
D000686:Amyloidosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis