Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification.
OBJECTIVE
To identify the molecular lesion in a patient with analbuminemia.


METHODS
DNA sequencing, genome-wide SNP microarray and synthetic peptide assays to investigate DNA and protein aberrations.


RESULTS
A 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.


CONCLUSIONS
The truncated albumin molecule is potentially edited by proteolytic cleavage before it enters the circulation.
Davis
Ryan L
RL
Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, PO Box 4345, Christchurch, New Zealand. ryan.davis@otago.ac.nz
Peters
Theodore
T
Brennan
Stephen O
SO
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D034141:Hypoalbuminemia / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D011499:Protein Processing, Post-Translational; D012709:Serum Albumin / Q000172:deficiency / Q000235:genetics*
D012709:Serum Albumin