Analbuminemia Zonguldak: Case report and mutational analysis

Abstract Objectives To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait. Design and methods Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons and their flanking intron regions, as well as of the 5′ and 3′ UTR, of the albumin gene were conducted on DNA extracted from peripheral blood samples. Results DNA sequence analysis showed that the proband was homozygous, and his parents were both heterozygous, for a previously unreported 5180 T → A transversion. This silent mutation creates at position 5180–81 a new AG dinucleotide, the invariant sequence encountered in all eukaryotic intron acceptor splice sites. This aberrant splice site near the 3′end of exon 5 might alter the normal splicing mechanism. No other mutation was found in the examined regions of the gene. Conclusions> Our results define a new molecular defect in the albumin gene.