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Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene
Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova 16148, Italy
Praxis Kreuzmatte, Kreuzstrasse 2, Postfach, 3052 Zollikofen, Switzerland
Department of Nephrology/Hypertension, Inselspital, Bern University Hospital, and University of Bern, Bern 3010, Switzerland
Department of Biochemistry “A.Castellani”, University of Pavia, Pavia 27100, Italy
Current address: Nephrologische Abteilung, Department Medizin, Luzerner Kantonsspital, CH-6000 Luzern 16, Switzerland
* Author to whom correspondence should be addressed.
Received: 5 August 2011; in revised form: 15 September 2011 / Accepted: 13 October 2011 / Published: 25 October 2011
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.
Keywords: human serum albumin; analbuminemia; heteroduplex analysis; single-strand conformation polymorphism; DNA sequence
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Dagnino, M.; Caridi, G.; Haenni, U.; Duss, A.; Aregger, F.; Campagnoli, M.; Galliano, M.; Minchiotti, L. Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene. Int. J. Mol. Sci. 2011, 12, 7314-7322.
Dagnino M, Caridi G, Haenni U, Duss A, Aregger F, Campagnoli M, Galliano M, Minchiotti L. Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene. International Journal of Molecular Sciences. 2011; 12(11):7314-7322.
Dagnino, Monica; Caridi, Gianluca; Haenni, Ueli; Duss, Adrian; Aregger, Fabienne; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo. 2011. "Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene." Int. J. Mol. Sci. 12, no. 11: 7314-7322.