Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).
Familial amyloidosis, Finnish type (FAP-IV) was identified clinically in an American kindred with Scandinavian ancestry. A polymerase chain reaction (PCR)-based DNA diagnostic assay was used to identify a G-to-A mutation at position 654 of the gelsolin cDNA (G654A) in this family. Molecular diagnostic testing demonstrated the mutation in individuals in three generations--the clinically affected proband, here deceased clinically affected father, and her presumably affected presymptomatic child. This report represents a rare example of FAP IV and the G654A mutation identified in a family outside Finland. The disease-associated haplotype was similar to that observed in Finnish FAP IV families (suggesting common distant ancestry).
Steiner
R D
RD
Department of Medicine, University of Washington, School of Medicine, Seattle 98195.
Paunio
T
T
Uemichi
T
T
Evans
J P
JP
Benson
M D
MD
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002899:Chromosomes, Human, Pair 9; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D005387:Finland / Q000208:ethnology; D018260:Gelsolin / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D017720:Molecular Epidemiology; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D014481:United States / Q000453:epidemiology
D017931:DNA Primers; D018260:Gelsolin; D001224:Aspartic Acid; D001216:Asparagine