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Clinical Chemistry 48: 844-849, 2002;
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(Clinical Chemistry. 2002;48:844-849.)
© 2002 American Association for Clinical Chemistry, Inc.

Molecular Diagnosis of Analbuminemia: A Novel Mutation Identified in Two Amerindian and Two Turkish Families

Monica Galliano1, Monica Campagnoli1, Antonio Rossi1, Carl Heinz Wirsing von König2, Andrew W. Lyon3, Kivanc Cefle4, Alaattin Yildiz5, Sukru Palanduz4, Sukru Ozturk4 and Lorenzo Minchiotti1a

1 Department of Biochemistry "A. Castellani", Università di Pavia, 27100 Pavia, Italy.

2 Institut fur Hygiene and Laboratoriumsmedizin, Klinikum Krefeld, 47085 Krefeld, Germany.

3 Department of Pathology and Laboratory Medicine, University of Calgary, Foothills Medical Centre & Calgary Laboratory Services, Calgary, AB, T3C 0J5 Canada.
Department of Internal Medicine,
4 Division of Medical Genetics and
5 Division of Nephrology, Istanbul University, Istanbul Medical Faculty, 34390 Capa Istanbul, Turkey.

aAddress correspondence to this author at: Department of Biochemistry "A. Castellani", via Taramelli 3b, Università di Pavia, 27100 Pavia, Italy. Fax 39-382-423108; e-mail loremin{at}unipv.it.

Background: Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia.

Methods: We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand conformational polymorphism and heteroduplex analysis. The mutated DNA fragments were sequenced directly.

Results: In all four cases, analbuminemia was caused by the same mutation, an AT deletion at nucleotides 2430–2431, the 91st and 92nd bases of exon 3. This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues.

Conclusions: The AT deletion at nucleotides 2430–2431 is a novel mutation associated with analbuminemia.




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L. Dolcini, G. Caridi, M. Dagnino, A. Sala, S. Gokce, S. Sokucu, M. Campagnoli, M. Galliano, and L. Minchiotti
Analbuminemia Produced by a Novel Splicing Mutation
Clin. Chem., August 1, 2007; 53(8): 1549 - 1552.
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F. Campagna, F. Fioretti, M. Burattin, S. Romeo, F. Sentinelli, M. Bifolco, M. I. Sirinian, M. Del Ben, F. Angelico, and M. Arca
Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene
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M. Campagnoli, A. Sala, A. Romano, A. Rossi, J. Nauta, B. G.P. Koot, L. Minchiotti, and M. Galliano
Novel Nonsense Mutation Causes Analbuminemia in a Moroccan Family
Clin. Chem., January 1, 2005; 51(1): 227 - 229.
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