A novel splicing mutation causes analbuminemia in a Portuguese boy

Molecular Genetics and Metabolism

Volumn 105, Issue 3, 2012, Pages 479-483

  Caridi, Gianluca ^a   Dagnino, Monica ^a   Di Duca, Marco ^a   Pinto, Helena ^b   Espinheira, Maria do Céu ^b   Guerra, António ^b   Fernandes, Susana ^b   Campagnoli, Monica ^c   Galliano, Monica ^c   Minchiotti, Lorenzo ^c  

^a G GASLINI INSTITUTE   (Italy)

^b University of Porto   (Portugal)

^c UNIVERSITY OF PAVIA   (Italy)

Author keywords

Albumin gene; Analbuminemia; DNA and cDNA sequence analysis; Heteroduplex analysis; Human serum albumin; Splicing mutation

Indexed keywords

ALBUMIN; COMPLEMENTARY DNA; DNA;

ADOLESCENT; ALBUMIN BLOOD LEVEL; ALLELE; ANALBUMINEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CASE REPORT; CODON; DNA SEQUENCE; DNA SPLICING; EXON; GENE MUTATION; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HUMAN; HYPERCHOLESTEROLEMIA; LEUKOCYTE; MALE; PORTUGAL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN ELECTROPHORESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING MUTATION;

ADOLESCENT; BASE SEQUENCE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOALBUMINEMIA; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SERUM ALBUMIN;

EID: 84858280689     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.12.009     Document Type: Article

References (32)

1. Peters T. All About Albumin: Biochemistry, Genetics, and Medical Applications 1996, Academic Press, San Diego.
2. Minghetti P.P., Ruffner D.E., Kuang W.J., Dennison O.E., Hawkins J.W., Beattie W.G., Dugaiczyk A. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J. Biol. Chem. 1986, 261:6747-6757.
3. Minchiotti L., Galliano M., Kragh-Hansen U., Peters T. Mutations and polymorphisms of the gene of the major human blood protein, serum albumin. Hum. Mutat. 2008, 29:1007-1016.
4. The Albumin Website (accessed October 31, 2011). http://www.albumin.org.
5. Del Ben M., Burattin M., Arca M., Ceci F., Violi F., Angelico F. Treatment of severe hypercholesterolemia with atorvastatin in congenital analbumemia. Am. J. Med. 2004, 117:803-804.
6. Koot B.G., Houwen R., Pot D.J., Nauta J. Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. Eur. J. Pediatr. 2004, 163:664-670.
7. Demirsoy E., Gokce S., Ozker E. Coronary artery bypass surgery in a patient with analbuminemia. Tex. Heart Inst. J. 2011, 38:85-87.
8. Watkins S., Madison J., Galliano M., Minchiotti L., Putnam F.W. A nucleotide insertion and frameshift cause analbuminemia in an Italian family. Proc. Natl. Acad. Sci. U. S. A. 1994, 91:2275-2279.
9. Dagnino M., Caridi G., Aydin Z., Ozturk S., Karaali Z., Kazancioglu R., Cefle K., Gursu M., Campagnoli M., Galliano M., Minchiotti L. A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. Clin. Chim. Acta 2010, 411:1711-1715.
10. Dagnino M., Caridi G., Marsciani M., Bettocchi I., Tassinari D., Bernardi F., Chiodo F., Campagnoli M., Galliano M., Minchiotti L. A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient. Eur. J. Clin. Invest. 2010, 40:281-284.
11. Lyon A., Meinert P., Bruce G.A., Laxdal V.A., Salkie M.L. Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin. Chem. 1998, 44:2365-2367.
12. Campagnoli M., Rossi A., Palmqvist L., Flisberg A., Niklasson A., Minchiotti L., Galliano M. A novel splicing mutation causes an undescribed type of analbuminemia. Biochim. Biophys. Acta 2002, 1586:43-49.
13. Gianazza E., Astrua-Testori S., Giacon P., Righetti P.G. An improved protocol for 2D maps of serum proteins with immobilized pH gradients in the first dimension. Electrophoresis 1985, 6:332-339.
14. Newstead J., Card S.E., Lyon A.W. Low serum albumin and abnormal body shape in a young Canadian First Nations woman. Laboratory Medicine 2004, 35:350-356.
15. Mount S.M. A catalogue of splice junction sequences. Nucleic Acids Res. 1982, 10:459-472.
16. Vorechovsky I. Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res. 2006, 34:4630-4641.
17. Bhuvanagiri M., Schlitter A.M., Hentze M.W., Kulozik A.E. NMD: RNA biology meets human genetic medicine. Biochem. J. 2010, 430:365-377.
18. Andersen J.T., Sandlie I. A receptor-mediated mechanism to support clinical observation of altered albumin variants. Clin. Chem. 2007, 53:2216.
19. Dolcini L., Caridi G., Dagnino M., Sala A., Gökçe S., Sökücü S., Campagnoli M., Galliano M., Minchiotti L. Analbuminemia produced by a novel splicing mutation. Clin. Chem. 2007, 53:1549-1552.
20. Ruffner D.E., Dugaiczyk A. Splicing mutation in human hereditary analbuminemia. Proc. Natl. Acad. Sci. U. S. A. 1988, 85:2125-2129.
21. Peach R.J., Fellowes A.P., Brennan S.O., George P.M. Albumin Rugby Park: a truncated albumin variant caused by a G->C splice-site mutation in intron 13. Biochim. Biophys. Acta 1992, 1180:107-110.
22. Watkins S., Madison J., Davis E., Sakamoto Y., Galliano M., Minchiotti L., Putnam F.W. A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin. Proc. Natl. Acad. Sci. U. S. A. 1991, 88:5959-5963.
23. Watkins S., Madison J., Galliano M., Minchiotti L., Putnam F.W. Analbuminemia: three cases resulting from different point mutations in the albumin gene. Proc. Natl. Acad. Sci. U. S. A. 1994, 91:9417-9421.
24. Campagnoli M., Sala A., Labò S., Rossi A., Neuhaus T.J., Braegger C.P., Minchiotti L., Galliano M. Analbuminemia in a Swiss family is caused by a C -> T transition at nucleotide 4446 of the albumin gene. Clin. Biochem. 2005, 38:819-823.
25. Campagnoli M., Sala A., Romano A., Rossi A., Nauta J., Koot B.G., Minchiotti L., Galliano M. Novel nonsense mutation causes analbuminemia in a Moroccan family. Clin. Chem. 2005, 51:227-229.
26. Dagnino M., Caridi G., Haenni U., Duss A., Aregger F., Campagnoli M., Galliano M., Minchiotti L. Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. Int. J. Mol. Sci. 2011, 12:7314-7322.
27. Galliano M., Campagnoli M., Rossi A., Wirsing von König C.H., Lyon A.W., Cefle K., Yildiz A., Palanduz S., Ozturk S., Minchiotti L. Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin. Chem. 2002, 48:844-849.
28. Campagnoli M., Rosipal S., Debreová M., Rosipal R., Sala A., Romano A., Labò S., Galliano M., Minchiotti L. Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis. Clin. Chim. Acta 2006, 365:188-193.
29. Becker-Cohen R., Belostotsky R., Ben-Shalom E., Feinstein S., Rinat C., Frishberg Y. Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. Pediatr. Nephrol. 2009, 24:403-406.
30. Caridi G., Kacem M., Campagnoli M., Dagnino M., Debbabi W., Kochtali I., Neffati F., Galliano M., Minchiotti L. A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. Clin. Chem. Lab. Med. 2009, 47:1311-1313.
31. Ruhoff M.S., Greene M.W., Peters T. Location of the mutation in the first two reported cases of analbuminemia. Clin. Biochem. 2010, 43:525-527.
32. Campagna F., Fioretti F., Burattin M., Romeo S., Santinelli F., Bifolco M., Sirinian M.I., Del Ben M., Angelico F., Arca M. Congenital analbuminemia due to compound heterozygosity for novel mutations in the albumin gene. Clin. Chem. 2005, 51:1256-1258.