Detection and characterisation of large SERPINC1 deletions in type i inherited antithrombin deficiency

Human Genetics

Volumn 127, Issue 1, 2010, Pages 45-53

  Picard, Véronique ^a   Chen, Jian Min ^b   Tardy, Brigitte ^c   Aillaud, Marie Françoise ^d   Boiteux Vergnes, Christine ^e   Dreyfus, Marie ^f   Emmerich, Joseph ^a   Lavenu Bombled, Cécile ^g   Nowak Göttl, Ulrike ^h   Trillot, Nathalie ⁱ   Aiach, Martine ^a   Alhenc Gelas, Martine ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b INSERM   (France)

^c UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^d TIMONE HOSPITAL   (France)

^e HAUT LÉVÊQUE HOSPITAL   (France)

^f BICÊTRE HOSPITAL   (France)

^g HENRI MONDOR HOSPITAL   (France)

^h UNIVERSITY OF MÜNSTER   (Germany)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ANTITHROMBIN; ANTITHROMBIN III; GLUTAMIC ACID; ISOLEUCINE; SERINE; THREONINE; VALINE; SERPINC1 PROTEIN, HUMAN;

ADULT; ALU SEQUENCE; AMINO ACID SUBSTITUTION; ANTITHROMBIN DEFICIENCY; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MOLECULAR MECHANICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ADOLESCENT; AGED; ANTITHROMBIN III DEFICIENCY; FAMILY HEALTH; GENETICS; METHODOLOGY; MIDDLE AGED; MOLECULAR GENETICS;

ADOLESCENT; ADULT; AGED; ANTITHROMBIN III DEFICIENCY; ANTITHROMBINS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; SEQUENCE DELETION; YOUNG ADULT;

EID: 77449093217     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0742-6     Document Type: Article

References (34)

1. Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA (2005) Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 26:205-213
2. Beauchamp NJ, Makris M, Preston FE, Peake IR, Daly ME (2000) Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency-partial/complete deletions and rearrangement of the antithrombin gene. Thromb Haemost 83:715-721
3. Björk I, Olson ST (1997) Antithrombin. A bloody important serpin. Adv Exp Med Biol 425:17-33
4. Bock SC, Prochownik EV (1987) Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency. Blood 70:1273-1278
5. Britten RJ, Stout DB, Davidson EH (1989) The current source of human Alu retrotransposons is a conserved gene shared with Old World monkey. Proc Natl Acad Sci USA 86:3718-3722
6. Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C (2009) Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Hum Mol Genet 18:3605-3614
7. Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN (2005a) Complex gene rearrangements caused by serial replication slippage. Hum Mutat 26:125-134
8. Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN (2005b) Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat 26:362-373
9. Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN (2005c) Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat 25:207-221
10. Chen JM, Masson E, Macek M Jr, Raguénès O, Piskackova T, Fercot B, Fila L, Cooper DN, Audrézet MP, Férec C (2008) Detection of two Alu insertions in the CFTR gene. J Cyst Fibros 7:37-43
11. Chuzhanova N, Chen JM, Bacolla A, Patrinos GP, Férec C, Wells RD, Cooper DN (2009) Gene conversion causing human inherited disease: evidence for involvement of non-B-DNAforming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat 30:1189-1198
12. Daly M, Bruce D, Perry DJ, Price J, Harper PL, O'Meara A, Carrell RW (1990) Antithrombin Dublin (-3 Val-Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site. FEBS Lett 273:87-90
13. den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
14. Egeberg O (1965) Thrombophilia caused by inheritable deficiency of blood antithrombin. Scand J Clin Lab Invest 17:92
15. Emmerich J, Chadeuf G, Alhenc-Gelas M, Gouault-Heilman M, Toulon P, Fiessinger JN, Aiach M (1994) Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6. Thromb Haemost 72:534-539
16. Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM (2006) Gross genomic rearrangements involving deletions in the CFTR gene: characterisation of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 14:567-576
17. Fernandez-Rachubinski F, Rachubinski RA, Blajchman MA (1992) Partial deletion of an antithrombin III allele in a kindred with a type 1 deficiency. Blood 80:1476-1485
18. Jochmans K, Lissens W, Seneca S, Capel P, Chatelain B, Meeus P, Osselaer JC, Peerlinck K, Seghers J, Slacmeulder M, Stibbe J, van de Loo J, Vermylen J, Liebaers I, De Waele M (1998) The molecular basis of antithrombin deficiency in Belgian and Dutch families. Thromb Haemost 80:376-381
19. nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 77:197-211
20. Le Gac G, Gourlaouen I, Ronsin C, Géromel V, Bourgarit A, Parquet N, Quemener S, Le Maréchal C, Chen JM, Férec C (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. Blood 112:5238-5240
21. Lee ST, Kim HJ, Kim DK, Schuit RJ, Kim SH (2008) Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). J Thromb Haemost 6:701-703
22. Lieber MR (2008) The mechanism of human nonhomologous DNA end joining. J Biol Chem 283:1-5
23. Lijfering WM, Brouwer J-LP, Veeger NJGM, Bank I, Coppens M, Middeldorp S, Hamulyak K, Prins MH, Buller HR, van der Meer J (2009) Selective testing for thrombophilia in patients with first venous thrombosis. Results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood 113:5314-5322
24. Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL (1993) Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 32:4216-4224
25. Pavlova A, El-Maarri O, Luxembourg B, Lindhoff-Last E, Kochhan L, Bruhn HD, Delev D, Watzka M, Seifried E, Oldenburg J (2006) Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography. Haematologica 91:1264-1267
26. Perry DJ, Daly ME, Tait RC, Walker ID, Brown K, Beauchamp NJ, Preston FE, Gyde H, Harper PL, Carrell RW (1998) Antithrombin Cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families. Thromb Haemost 79:249-253
27. Picard V, Dautzenberg MD, Villoutreix BO, Orliaguet G, Alhenc-Gelas M, Aiach M (2003) Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Blood 102:919-925
28. Picard V, Nowak-Göttl U, Biron-Andreani C, Fouassier M, Frere C, Goualt-Heilman M, de Maistre E, Regina S, Rugeri L, Ternisien C, Trichet C, Vergnes C, Aiach M, Alhenc-Gelas M (2006) Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene. Hum Mutat 27:600
29. Picard V, Présot I, Scarabin PY, Aiach M, Emmerich J, Alhenc-Gelas M (2007) Antithrombin Cambridge II (A384S): prevalence in patients of the Paris Thrombosis Study (PATHROS). Blood 110:2777-2778
30. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57
31. Sellner LN, Taylor GR (2004) MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 23:413-419
32. Sheen CR, Jewell UR, Morris CM, Brennan SO, Férec C, George PM, Smith MP, Chen JM (2007) Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. Hum Mutat 28:1198-1206
33. Silverman GA, Bird PI, Carrell RW, Church FC, Coughlin PB, Gettins PG, Irving JA, Lomas DA, Luke CJ, Moyer RW, Pemberton PA, Remold-O'Donnell E, Salvesen GS, Travis J, Whisstock JC (2001) The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature. J Biol Chem 276:33293-33296
34. Van Boven HH, Vandenbroucke JP, Briet E, Rosendaal FR (1999) Gene-gene and gene-environment interactions determine the risk of thrombosis in families with inherited antithrombin deficiency. Blood 94:2590-2594