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

Robert D. Steiner, James P. Evans, Tiina Paunio, Tomoyuki Uemichi, Merrill D. Benson

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Familial amloidosis, 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, her 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).

Original languageEnglish (US)
Pages (from-to)327-330
Number of pages4
JournalHuman genetics
Volume95
Issue number3
DOIs
StatePublished - Mar 1 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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