Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis,Finnish type (FAP IV) |
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| Authors: | Robert D Steiner James P Evans Tiina Paunio Tomoyuki Uemichi Merrill D Benson |
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| Institution: | (1) Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, 98195 Seattle, WA, USA;(2) Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, 63110 St. Louis, MO, USA;(3) Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland;(4) Departments of Medicine and Medical Genetics, Division of Rheumatology, Indiana University School of Medicine, 46223 Indianapolis, IN, USA |
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| 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). |
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