Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families.

BACKGROUND Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia. METHODS We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand conformational polymorphism and heteroduplex analysis. The mutated DNA fragments were sequenced directly. RESULTS In all four cases, analbuminemia was caused by the same mutation, an AT deletion at nucleotides 2430-2431, the 91st and 92nd bases of exon 3. This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues. CONCLUSIONS The AT deletion at nucleotides 2430-2431 is a novel mutation associated with analbuminemia.