Molecular diagnosis of analbuminemia: A new case caused by a nonsense mutation in the albumin gene

Monica Dagnino, Gianluca Caridi, Ueli Haenni, Adrian Duss, Fabienne Aregger, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)7314-7322
Number of pages9
JournalInternational Journal of Molecular Sciences
Volume12
Issue number11
DOIs
Publication statusPublished - Nov 2011

Keywords

  • Analbuminemia
  • DNA sequence
  • Heteroduplex analysis
  • Human serum albumin
  • Single-strand conformation polymorphism

ASJC Scopus subject areas

  • Computer Science Applications
  • Molecular Biology
  • Catalysis
  • Inorganic Chemistry
  • Spectroscopy
  • Organic Chemistry
  • Physical and Theoretical Chemistry
  • Medicine(all)

Fingerprint

Dive into the research topics of 'Molecular diagnosis of analbuminemia: A new case caused by a nonsense mutation in the albumin gene'. Together they form a unique fingerprint.

Cite this