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 Benson

Research output: Contribution to journalArticle

18 Citations (Scopus)

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
Pages (from-to)327-330
Number of pages4
JournalHuman Genetics
Volume95
Issue number3
DOIs
StatePublished - Mar 1995

Fingerprint

Gelsolin
Mutation
Molecular Diagnostic Techniques
Finland
Fathers
Haplotypes
Complementary DNA
Polymerase Chain Reaction
DNA
Meretoja syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). / Steiner, Robert D.; Evans, James P.; Paunio, Tiina; Uemichi, Tomoyuki; Benson, Merrill.

In: Human Genetics, Vol. 95, No. 3, 03.1995, p. 327-330.

Research output: Contribution to journalArticle

Steiner, Robert D. ; Evans, James P. ; Paunio, Tiina ; Uemichi, Tomoyuki ; Benson, Merrill. / Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). In: Human Genetics. 1995 ; Vol. 95, No. 3. pp. 327-330.
@article{ac4e2d3763f04edaa5829a88cf2b27cc,
title = "Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)",
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).",
author = "Steiner, {Robert D.} and Evans, {James P.} and Tiina Paunio and Tomoyuki Uemichi and Merrill Benson",
year = "1995",
month = "3",
doi = "10.1007/BF00225202",
language = "English",
volume = "95",
pages = "327--330",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)

AU - Steiner, Robert D.

AU - Evans, James P.

AU - Paunio, Tiina

AU - Uemichi, Tomoyuki

AU - Benson, Merrill

PY - 1995/3

Y1 - 1995/3

N2 - 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).

AB - 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).

UR - http://www.scopus.com/inward/record.url?scp=0028968099&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028968099&partnerID=8YFLogxK

U2 - 10.1007/BF00225202

DO - 10.1007/BF00225202

M3 - Article

VL - 95

SP - 327

EP - 330

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -