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• W2032000240 abstract "Inherited protein S (PS) deficiency (MIM +176880) is an autosomal dominant disorder that is associated with increased risk of recurrent venous thromboembolism (VTE) [1Comp P.C. Esmon C.T. Recurrent venous thromboembolism in patients with a partial deficiency of protein S.N Engl J Med. 1984; 311: 1525-8Crossref PubMed Google Scholar]. It is caused by a mutation in the gene encoding PS, PROS1, on 3q11.2 [2Schmidel D.K. Tatro A.V. Phelps L.G. Tomczak J.A. Long G.L. Organization of the human protein S genes.Biochemistry. 1990; 29: 7845-52Crossref PubMed Scopus (128) Google Scholar]. The mutation profile of PROS1 is heterogeneous, being mostly comprised of point mutations, while large rearrangements account for only a limited proportion of mutations reported thus far [3Gandrille S. Borgel D. Sala N. Espinosa‐Parrilla Y. Simmonds R. Rezende S. Lind B. Mannhalter C. Pabinger I. Reitsma P.H. Formstone C. Cooper D.N. Saito H. Suzuki K. Bernardi F. Aiach M. Protein S deficiency: a database of mutations – summary of the first update.Thromb Haemost. 2000; 84: 918Crossref PubMed Google Scholar, 4Biguzzi E. Razzari C. Lane D.A. Castaman G. Cappellari A. Bucciarelli P. Fontana G. Margaglione M. D’Andrea G. Simmonds R.E. Rezende S.M. Preston R. Prisco D. Faioni E.M. Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.Hum Mutat. 2005; 25: 259-69Crossref PubMed Scopus (0) Google Scholar, 5The Human Gene Mutation Database (HGMD). http://www.hgmd.cf.ac.uk/ ; accessed 8 April 2008.Google Scholar]. Of note, PROS1 mutations have been identified in only ∼50% of patients or families with PS deficiency [6Lanke E. Johansson A.M. Hillarp A. Lethagen S. Zoller B. Dahlback B. Hallden C. Co‐segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1.J Thromb Haemost. 2004; 2: 1918-23Crossref PubMed Scopus (0) Google Scholar]. Recently, it was reported that large deletion mutations account for a large fraction of mutation‐negative patients with PS deficiency [7Johansson A.M. Hillarp A. Sall T. Zoller B. Dahlback B. Hallden C. Large deletions of the PROS1 gene in a large fraction of mutation‐negative patients with protein S deficiency.Thromb Haemost. 2005; 94: 951-7Crossref PubMed Scopus (35) Google Scholar]. Large gene rearrangements are not detectable by mutation screening or direct sequencing, and conventional molecular methods such as Southern blotting have technical drawbacks such as labor‐intensiveness and poor reproducibility. Recently, a rapid comparative quantification method, multiplex ligation‐dependent probe amplification (MLPA), has been developed with a proven reliability and sensitivity in detecting gene dosage changes from deletions or duplications involving one or more exons [8Schouten J.P. McElgunn C.J. Waaijer R. Zwijnenburg D. Diepvens F. Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation‐dependent probe amplification.Nucleic Acids Res. 2002; 30: e57Crossref PubMed Google Scholar]. For the first time in the literature, here we report on a large duplication mutation of PROS1 detected by MLPA in a Korean patient with portal vein thrombosis. The patient was a 39‐year‐old Korean man with portal vein thrombosis. Computed tomography showed that the right portal vein was obliterated with thrombus. Family history was not remarkable. His complete blood cell counts were normal, and liver function tests showed mild abnormalities without evidence of cirrhosis. Coagulation tests without anticoagulation revealed a decreased free PS antigen level at 16% (LIATEST Free Protein S; Diagnostica Stago, Asnières, France; reference range, 62–154%) and a decreased PS activity at 20% (STACLOT Protein S; Diagnostica Stago; 60–146%). The total PS antigen level on a separate blood sample was 73% (LIATEST Protein S; Diagnostica Stago; 57–124%). Other coagulation tests including protein C activity and antithrombin activity were normal. For the diagnosis of inherited PS deficiency, we performed direct sequencing of all coding exons and flanking intronic sequences of PROS1, but found no mutations. Under the suspicion of a gross rearrangement mutation, we additionally performed exon dosage analysis by using the MLPA kit (SALSA MLPA KIT P112 PROS1; MRC Holland, Amsterdam, the Netherlands), according to the manufacturer’s instructions. Data were analyzed using the GeneScan (Applied Biosystems, Foster City, CA, USA) and GeneMarker (SoftGenetics, State College, PA, USA) software. The result of MLPA analysis indicated a heterozygous large duplication mutation involving exon 5 through exon 10 of PROS1 (Fig. 1A). To provide further evidence on the rearrangement, we performed long‐range polymerase chain reaction (PCR) using PROS1‐specific 5′ primer on exon 10 and 3′ primer on exon 5 (Fig. 1B, top). As a result, we detected a 2.2 kb‐sized aberrant amplicon, which was not detected in normal controls (Fig. 1C). This indicated that the duplicon (exon 5–exon 10) was tandemly arranged with the normal gene segment. To pinpoint the junction of the duplication, the mutant fragment was sequenced from the 5′ and 3′ ends by sequential primer pairs, and we could precisely locate the junction occurring between intron 10 (IVS10+1064) and intron 4 (IVS4‐210) (Fig. 1B, bottom). A review of the literature revealed only a limited number of cases of large genomic rearrangements of PROS1. All previous cases of large rearrangements were large deletion mutations. As for insertion mutations, the largest size of insertion in PROS1 involved a 15‐bp segment within a single exon [4Biguzzi E. Razzari C. Lane D.A. Castaman G. Cappellari A. Bucciarelli P. Fontana G. Margaglione M. D’Andrea G. Simmonds R.E. Rezende S.M. Preston R. Prisco D. Faioni E.M. Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.Hum Mutat. 2005; 25: 259-69Crossref PubMed Scopus (0) Google Scholar, 5The Human Gene Mutation Database (HGMD). http://www.hgmd.cf.ac.uk/ ; accessed 8 April 2008.Google Scholar]. Thus, the present case is the first large genomic insertion (or duplication) mutation of PROS1. We confirmed the duplication junction by long‐range PCR and direct sequencing. Because a family study was not performed, we could not determine whether the mutation was inherited from either of the patient’s parents or had occurred de novo. There have been several studies investigating the occurrence of PS deficiency in patients with portal vein thrombosis with a wide range of frequencies from 2.2% to 43% [9Janssen H.L. Meinardi J.R. Vleggaar F.P. Van Uum S.H. Haagsma E.B. Van Der Meer F.J. Van Hattum J. Chamuleau R.A. Adang R.P. Vandenbroucke J.P. Van Hoek B. Rosendaal F.R. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd–Chiari syndrome and portal vein thrombosis: results of a case–control study.Blood. 2000; 96: 2364-8PubMed Google Scholar, 10Egesel T. Buyukasik Y. Dundar S.V. Gurgey A. Kirazli S. Bayraktar Y. The role of natural anticoagulant deficiencies and factor V Leiden in the development of idiopathic portal vein thrombosis.J Clin Gastroenterol. 2000; 30: 66-71Crossref PubMed Scopus (0) Google Scholar]. The varying frequencies might have been a result of different selection criteria and laboratory tests, and the presence of concomitant liver cirrhosis. Of note, none of these studies employed molecular genetic tests, and the present patient represents the first case of genetically confirmed PS deficiency underlying portal vein thrombosis. As for the type of PS deficiency, the patient had type III deficiency, with a decreased free Ag level but with a normal total Ag level. Previously reported cases with large deletions of PROS1 had either type I or type III deficiency [7Johansson A.M. Hillarp A. Sall T. Zoller B. Dahlback B. Hallden C. Large deletions of the PROS1 gene in a large fraction of mutation‐negative patients with protein S deficiency.Thromb Haemost. 2005; 94: 951-7Crossref PubMed Scopus (35) Google Scholar, 11Holmes Z.R. Bertina R.M. Reitsma P.H. Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR.Br J Haematol. 1996; 92: 986-91Crossref PubMed Google Scholar, 12Yin T. Takeshita S. Sato Y. Sakata T. Shin Y. Honda S. Kawasaki T. Tsuji H. Kojima T. Madoiwa S. Sakata Y. Murata M. Ikeda Y. Miyata T. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency.Thromb Haemost. 2007; 98: 783-9Crossref PubMed Scopus (17) Google Scholar]. In some families, both type I and type III deficiencies have occurred despite the same genetic background (large deletion mutation) [7Johansson A.M. Hillarp A. Sall T. Zoller B. Dahlback B. Hallden C. Large deletions of the PROS1 gene in a large fraction of mutation‐negative patients with protein S deficiency.Thromb Haemost. 2005; 94: 951-7Crossref PubMed Scopus (35) Google Scholar]. The MLPA technique has distinct advantages over traditional methods such as Southern blotting, with short hand‐on time and turnaround time, and it is reproducible. Yin et al. [12Yin T. Takeshita S. Sato Y. Sakata T. Shin Y. Honda S. Kawasaki T. Tsuji H. Kojima T. Madoiwa S. Sakata Y. Murata M. Ikeda Y. Miyata T. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency.Thromb Haemost. 2007; 98: 783-9Crossref PubMed Scopus (17) Google Scholar] first described a large deletion mutation in PROS1 using MLPA. Recently, our group also reported antithrombin deficiency from large deletion mutations of the SERPINC1 gene detected by MLPA [13Lee S.T. Kim H.J. Kim D.K. Schuit R.J. Kim S.H. Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation‐dependent probe amplification (MLPA).J Thromb Haemost. 2008; 6: 701-3Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar]. As the recent line of evidence indicates that large rearrangement mutations of PROS1 could account for a significant proportion of genetic mechanisms underlying inherited PS deficiency, the molecular technique to detect these large mutations should be employed as the second‐line genetic test when no point mutations are found on direct sequencing. The MLPA method could be a viable option for this aim, as shown in the present case. The authors state that they have no conflict of interest. This study was supported by the Samsung Medical Center Clinical Research Development Program grant, #CRS‐107‐05‐1." @default.
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• W2032000240 title "Inherited protein S deficiency as a reszult of a large duplication mutation of the PROS1 gene detected by multiplex ligation‐dependent probe amplification" @default.
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