Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification

ObjectivesTo identify the molecular lesion in a patient with analbuminemia.Design and methodsDNA sequencing, genome-wide SNP microarray and synthetic peptide assays to investigate DNA and protein aberrations.ResultsA homozygous frameshift deletion in exon 12 of HSA is predicted to cause truncation of the albumin protein. A proalbumin-like sequence identified in the novel C-terminal sequence has the potential to be post-translationally modified.ConclusionsThe truncated albumin molecule is potentially edited by proteolytic cleavage before it enters the circulation.