Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).
BACKGROUND
Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin. Here we report the first case of hereditary analbuminemia in the ethnic Swedish population, and we define the molecular defect that causes the analbuminemic trait.


METHODS
Total DNA, extracted from peripheral blood samples from the analbuminemic proband and his parents, was PCR-amplified using oligonucleotide primers designed to amplify the 14 exons, the exon-intron splice junctions, and the 5' and 3' untranslated regions of the albumin gene. The products were screened for mutations by single-strand conformation polymorphism and heteroduplex analyses. The latter allowed the identification of the abnormal fragment, which was then sequenced.


RESULTS
The analbuminemic trait of the proband was caused by a homozygous AT deletion at nucleotides c. 228-229, the 91st and 92nd bases of exon 3. This defect, previously identified as Kayseri mutation [M. Galliano, M. Campagnoli, A. Rossi, et al. Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin Chem 2002;48: 844-849.], produces a frameshift leading to a premature stop, two codons downstream.


CONCLUSIONS
The Kayseri mutation appears to be the most common cause of analbuminemia in humans, and is found in individuals belonging to geographically distant, and apparently unrelated ethnic groups.
Campagnoli
Monica
M
Department of Biochemistry A.Castellani, University of Pavia, viale Taramelli 3B, 27100 Pavia, Italy.
Hansson
Per
P
Dolcini
Lorenzo
L
Caridi
Gianluca
G
Dagnino
Monica
M
Candiano
Giovanni
G
Bruschi
Maurizio
M
Palmqvist
Lars
L
Galliano
Monica
M
Minchiotti
Lorenzo
L
D000328:Adult; D001483:Base Sequence; D015180:Electrophoresis, Gel, Two-Dimensional; D005091:Exons / Q000235:genetics; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D034141:Hypoalbuminemia / Q000097:blood* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D013548:Sweden