A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman

作者：Dagnino Monica; Caridi Gianluca; Aydin Zeki; Ozturk Savas; Karaali Zeynep; Kazancioglu Rumeyza; Cefle Kivanc; Gursu Meltem; Campagnoli Monica; Galliano Monica; Minchiotti Lorenzo^*

来源：Clinica Chimica Acta, 2010, 411(21-22): 1711-1715.

DOI：10.1016/j.cca.2010.07.009

• Human serum albumin
• Analbuminemia
• Heteroduplex analysis
• Hypercholesterolemia
• Single-strand conformation polymorphism
• DNA sequence

Background: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin The analbuminemic trait was diagnosed in a young Turkish woman on the basis of her clinical symptoms (bilateral lower limb edema) and biochemical findings (minimal albumin amount and variable increases in other protein fractions)
Methods. Total DNA from the analbuminemic proband and her parents was PCR-amplified using oligonucleotide primers designed to amplify the 14 exons of the albumin gene (ALB) and the flanking intron regions The products were screened for mutations by single-strand conformation polymorphism (SSCP) and heteroduplex analyses (HA).
Results: HA allowed the identification of the mutation site in exon 12 Direct DNA sequencing of this abnormal fragment revealed that the analbuminemic trait was caused by a homozygous CA deletion at nucleotide positions c 1614-1615 in the codons for Cys538 and Thr539 The subsequent frameshift should give rise to a putative truncated albumin variant in which the sequence Cys(538)-Thr-Leu-Ser has been changed to Cys(538)-Thr-Phe-Stop The parents were heterozygous for the same mutation
Conclusions. Gel-based mutation detection and DNA sequencing substantiate the clinical diagnosis of congenital analbuminemia in our patient and show that the condition is caused by a novel mutation within the ALB gene. These results contribute to shed light on the molecular basis of this rare condition.

• 出版日期2010-11-11