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

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.

journal_name

Int J Mol Sci

journal_title

International journal of molecular sciences

authors

Dagnino M,Caridi G,Haenni U,Duss A,Aregger F,Campagnoli M,Galliano M,Minchiotti L

doi

10.3390/ijms12117314

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

7314-22

issue

11

issn

1422-0067

pii

ijms-12-07314

journal_volume

12

pub_type

杂志文章

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