Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families.
Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin Chem 1998;44:2365-7.
These results showed that the mutation we report, for which we suggest the name Bartin, affects pre-mRNA maturation by inactivating the 5' splice site sequence at the 11th exon-intron boundary of the albumin gene, and is a previously unreported mutation causing analbuminemia.
In humans only 2 DNA mutations affecting splicing have been reported to cause analbuminemia, but the consequence of the mutations on the mRNA could not be evaluated (8, 9).
Two of the 10 different mutations reported to cause analbuminemia in humans, the Fondi allele (13378 A[right arrow]G) (11) and the Bartin mutation (13381 T[right arrow]C), lie in close proximity within the exon 11-intron 11 junction.
In summary, we report the first case of congenital analbuminemia attributable to compound heterozygosity for 2 new mutations in the HSA gene.
A further case of analbuminemia. Schwiez Med Wochenschr 2000;130:583-9.
Further studies on plasma proteins, lipids, and dye- and drug-binding in a child with analbuminemia. Clin Chem 1981;27:1213-6.
All four presented with low circulating albumin, but the values were >1 g/L, which is conventionally accepted as indicative of analbuminemia.
She presented with generalized edema at the age of 17, and analbuminemia was diagnosed on the basis of the electrophoretic pattern of serum proteins in which albumin represented only 5.2% of the total (~3 g/L), whereas all other fractions were markedly increased.
Although non-zero results were obtained with both agarose gel (patient DN) and cellulose acetate (patient KB) electrophoresis, other analbuminemia studies have occasionally reported albumin concentrations of 0 g/L with electrophoresis.
1 shows that most variation in the apparent albumin concentration in analbuminemia reports is accounted for by the albumin methodology (one-way ANOVA, P <0.001).