title: 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.
authors.affiliation: Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova 16148, Italy; E-Mails:  monicadagnino@ospedale-gaslini.ge.it  (M.D.);  gianlucacaridi@ospedale-gaslini.ge.it  (G.C.).
authors.forename: Monica
authors.initials: M
authors.lastname: Dagnino
authors.forename: Gianluca
authors.initials: G
authors.lastname: Caridi
authors.forename: Ueli
authors.initials: U
authors.lastname: Haenni
authors.forename: Adrian
authors.initials: A
authors.lastname: Duss
authors.forename: Fabienne
authors.initials: F
authors.lastname: Aregger
authors.forename: Monica
authors.initials: M
authors.lastname: Campagnoli
authors.forename: Monica
authors.initials: M
authors.lastname: Galliano
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Minchiotti
mesh_terms: D044466:Asian People / Q000235:genetics; D018389:Codon, Nonsense; D005091:Exons; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D057089:Pathology, Molecular / Q000379:methods*; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D012709:Serum Albumin / Q000172:deficiency* / Q000235:genetics*; D013557:Switzerland
chemical_list: D018389:Codon, Nonsense; D012709:Serum Albumin