Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)

Hum Genet. 1995 Mar;95(3):327-30. doi: 10.1007/BF00225202.


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).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Amyloidosis / genetics*
  • Asparagine / genetics
  • Aspartic Acid / genetics
  • Base Sequence
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 9
  • DNA Mutational Analysis
  • DNA Primers
  • Female
  • Finland / ethnology
  • Gelsolin / genetics*
  • Haplotypes
  • Humans
  • Male
  • Molecular Epidemiology
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • United States / epidemiology


  • DNA Primers
  • Gelsolin
  • Aspartic Acid
  • Asparagine