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

Clinica Chimica Acta; International Journal of Clinical Chemistry
Monica DagninoL Minchiotti

Abstract

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). 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). 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. Gel-based mutation detection and DNA sequencing substantiate the clinical diagnos...Continue Reading

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Citations

Dec 17, 2011·International Journal of Molecular Sciences·Monica DagninoLorenzo Minchiotti
Feb 14, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Gianluca CaridiLorenzo Minchiotti
Jan 11, 2012·Molecular Aspects of Medicine·Gabriella FanaliPaolo Ascenzi
Nov 28, 2012·European Journal of Clinical Investigation·Gianluca CaridiLorenzo Minchiotti
Apr 25, 2013·Biochimica Et Biophysica Acta·Lorenzo MinchiottiTheodore Peters
Jan 10, 2012·Molecular Genetics and Metabolism·Gianluca CaridiLorenzo Minchiotti
Oct 25, 2012·Clinical Chemistry and Laboratory Medicine : CCLM·Gianluca CaridiLorenzo Minchiotti
Mar 8, 2019·World Journal of Clinical Cases·Patrizia SuppressaCarlo Sabbà
May 7, 2019·Frontiers in Genetics·Lorenzo MinchiottiUlrich Kragh-Hansen

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