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Clinical Chemistry 53: 1549-1552, 2007; 10.1373/clinchem.2007.089748
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(Clinical Chemistry. 2007;53:1549-1552.)
© 2007 American Association for Clinical Chemistry, Inc.

Case Report

Analbuminemia Produced by a Novel Splicing Mutation

Lorenzo Dolcini1,1, Gianluca Caridi2,1, Monica Dagnino2,3, Alberto Sala1, Selim Gökçe4, Semra Sökücü1, Monica Campagnoli1, Monica Galliano1 and Lorenzo Minchiotti1,a

1 Department of Biochemistry, University of Pavia, Pavia, Italy.
2 Laboratory on Pathophysiology of Uremia and 3 Renal Child Foundation, Istituto Giannina Gaslini IRCCS, Genova, Italy.
4 Department of Pediatric Gastroenterology, Hepatology and Nutrition, Istanbul School of Medicine, Istanbul University.

aAddress correspondence to this author at: Department of Biochemistry Università di Pavia, 27100 Pavia, Italy. Fax 39-0382-423108; e-mail loremin{at}unipv.it.

Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating human serum albumin in homozygous or compound heterozygous individuals. It is an allelic heterogeneous defect, caused by a variety of mutations within the albumin gene. The analbuminemic condition was diagnosed in a Turkish female infant on the basis of low albumin concentration (~9.0 g/L). The albumin gene was screened by single-strand conformation polymorphism and heteroduplex analysis and submitted to direct sequencing. The proband was found to be homozygous for a T->C transition at nucleotide 13381, the 2nd base of intron 11. The effect of this previously unreported mutation, which inactivates the strongly conserved GT dinucleotide at the 5' splice site consensus sequence of intron 11, was evaluated by examining the cDNA obtained by reverse transcription-PCR from the albumin mRNA extracted from the proband leukocytes. This analysis revealed that the mutation, named Bartin for the geographical origin of the patient’s family, results in the skipping of exon 11. The subsequent frameshift within exon 12 originates a premature stop codon located 5 codons downstream at position 411. The predicted translation product would consist of 410 amino acids. This novel extensive cDNA alteration is responsible for the analbuminemic trait.




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
J. T. Andersen and I. Sandlie
A Receptor-Mediated Mechanism to Support Clinical Observation of Altered Albumin Variants
Clin. Chem., December 1, 2007; 53(12): 2216 - 2216.
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