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Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

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Author(s): Monica Dagnino | Gianluca Caridi | Ueli Haenni | Adrian Duss | Fabienne Aregger | Monica Campagnoli | Monica Galliano | Lorenzo Minchiotti

Journal: International Journal of Molecular Sciences
ISSN 1422-0067

Volume: 12;
Issue: 11;
Start page: 7314;
Date: 2011;
Original page

Keywords: human serum albumin | analbuminemia | heteroduplex analysis | single-strand conformation polymorphism | DNA sequence

ABSTRACT
Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB). We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L) in the absence of renal or gastrointestinal protein loss, or liver dysfunction. The clinical diagnosis was confirmed by a mutational analysis of the albumin (ALB) gene, carried out by single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing. This screening of the ALB gene revealed that the proband is homozygous for two mutations: the insertion of a T in a stretch of eight Ts spanning positions c.1289 + 23–c.1289 + 30 of intron 10 and a c.802 G > T transversion in exon 7. Whereas the presence of an additional T in the poly-T tract has no direct deleterious effect, the latter nonsense mutation changes the codon GAA for Glu244 to the stop codon TAA, resulting in a premature termination of the polypeptide chain. The putative protein product would have a length of only 243 amino acid residues instead of the normal 585 found in the mature serum albumin, but no evidence for the presence in serum of such a truncated polypeptide chain could be obtained by two dimensional electrophoresis and western blotting analysis.
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Tango Jona
Tangokurs Rapperswil-Jona