Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
A family with familial amyloidotic polyneuropathy (FAP) was previously found to have a substitution of asparagine for histidine at position 90 of transthyretin. Members with his90asn developed FAP. However, close examination of the transthyretin gene revealed that glu42gly is coinherited with his90asn in this family. Since glu42gly has already been seen in Japanese FAP patients, and his90asn has been found in Portuguese and German individuals without FAP, we conclude that his90asn is a nonpathogenic variant.
Skare
J
J
Center for Human Genetics, Boston University School of Medicine.
Jones
L A
LA
Myles
N
N
Kane
K
K
Milunsky
A
A
Cohen
A
A
Skinner
M
M
D000328:Adult; D017772:Amyloid Neuropathies / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin; D018698:Glutamic Acid; D006639:Histidine; D001216:Asparagine; D005998:Glycine