Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation [3]

Thrombosis and Haemostasis

Volumn 93, Issue 2, 2005, Pages 391-392

  Bicocchi, Maria Patrizia ^a   Pasino, Mirella ^a   Lanza, Tiziana ^a   Bottini, Federico ^a   Molinari, Angelo Claudio ^a   Rosano, Camillo ^b   Acquilla, Maura ^a  

^a G GASLINI INSTITUTE   (Italy)

^b CENTRO DI BIOTECNOLOGIE AVANZATE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; COMPLEMENTARY DNA; CYSTEINE; GENOMIC DNA; GLUTAMIC ACID; MESSENGER RNA; PROLINE;

CHORION VILLUS SAMPLING; DISEASE SEVERITY; EXON; GEL ELECTROPHORESIS; GENE MUTATION; HEMOPHILIA A; HUMAN; INTRON; LETTER; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING;

EID: 13844296535     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1616251     Document Type: Letter

References (13)

1. Bicocchi MP, Pasino M, Lanza T, et al. Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. Am J Hematol 2004; in press.
2. Kemball-Cook G, Tuddenham EG, Wacey AI. The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4. Nucleic Acids Res 1998; 26: 216-9.
3. Ganguly A, Dunbar T, Chen P, et al. Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. Hum Genet 2003; 113: 348-52.
4. Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992; 90: 41-54.
5. Nakai K, Sakamoto H. Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 1994; 141: 171-7.
6. Robberson BL, Cote GJ, Berget SM. Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol 1990; 10: 84-94.
7. Anwar R, Miloszewski KJ, Markham AF. New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance. Thromb Haemost 1998; 79: 1151-6.
8. Mikkola H, Muszbek L, Laiho E, et al. Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA. Blood 1997; 89: 1279-87.
9. Ozkara HA, Sandhoff K. A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit gene affects splicing. Brain Dev 2003; 25: 203-6.
10. Tavassoli K, Eigel A, Pollmann H, et al. Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations. Hum Genet 1997; 100: 508-11.
11. Stoilova-McPhie S, Villoutreix BO, Mertens K, et al. 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography. Blood 2002; 99: 1215-23.
12. Jones TA, Zou JY, Cowan SW, et al. Improved methods for building protein models in electron density maps and the location of errors in these models. Acta Crystallogr A 1991; 47: 110-9.
13. Nogami K, Shima M, Nishiya K, et al. A novel mechanism of factor VIII protection by von Willebrand factor from activated protein C-catalyzed inactivation. Blood 2002; 99: 3993-8.