Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly
Summary Two families with 'factor X(FX)-Riyadh' have been identified (one of them related to the originally reported family). Affected members of both families exhibit prolongation in prothrombin time (PT) with normal partial thromboplastin time (PTT) and low assay levels of FX, when measu...
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| Veröffentlicht in: | Thrombosis and haemostasis 2007-04, Vol.97 (4), p.542-545 |
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| container_title | Thrombosis and haemostasis |
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| creator | Akram Al-Hilali Karin Wulff Hikmat Abdel-Razeq Khalida Abu Saud Fateh Al-Gaili Falko H. Herrmann |
| description | Summary
Two families with 'factor X(FX)-Riyadh' have been identified (one of them related to the originally reported family). Affected members of both families exhibit prolongation in prothrombin time (PT) with normal partial thromboplastin time (PTT) and low assay levels of FX, when measured by PT-based assay. They do not have clinical bleeding diathesis, regardless of the PT prolongation. FX genes of the affected family members were analyzed by sequence analysis. A novel missense mutation in exon 4 of the FX gene, which causes the Glu51Lys substitution in the first epidermal growth factor-like domain of FX was found. The Glu51Lys mutation represents a type II mutation with low FX coagulant activity in the extrinsic pathway and normal FX antigen levels. This mutation may result in disruption of the predicted H-bonding between residue Glu51 of FX and the Asn199 residue of the tissue factor (TF) in the FX/TF/factorVIIa ternary complex, producing the phenotype 'FX deficiency Riyadh', with prolonged PT and normal PTT. |
| doi_str_mv | 10.1160/TH06-09-0532 |
| format | Article |
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Two families with 'factor X(FX)-Riyadh' have been identified (one of them related to the originally reported family). Affected members of both families exhibit prolongation in prothrombin time (PT) with normal partial thromboplastin time (PTT) and low assay levels of FX, when measured by PT-based assay. They do not have clinical bleeding diathesis, regardless of the PT prolongation. FX genes of the affected family members were analyzed by sequence analysis. A novel missense mutation in exon 4 of the FX gene, which causes the Glu51Lys substitution in the first epidermal growth factor-like domain of FX was found. The Glu51Lys mutation represents a type II mutation with low FX coagulant activity in the extrinsic pathway and normal FX antigen levels. This mutation may result in disruption of the predicted H-bonding between residue Glu51 of FX and the Asn199 residue of the tissue factor (TF) in the FX/TF/factorVIIa ternary complex, producing the phenotype 'FX deficiency Riyadh', with prolonged PT and normal PTT.</description><identifier>ISSN: 0340-6245</identifier><identifier>EISSN: 2567-689X</identifier><identifier>DOI: 10.1160/TH06-09-0532</identifier><identifier>PMID: 17393015</identifier><language>eng</language><publisher>Germany: Schattauer Verlag für Medizin und Naturwissenschaften</publisher><subject>Adolescent ; Adult ; Aged ; Blood Coagulation, Fibrinolysis and Cellular Haemostasis ; Child ; DNA Mutational Analysis ; exon 4 ; Exons ; Factor X - genetics ; Factor X - metabolism ; Factor X Deficiency - blood ; Factor X Deficiency - genetics ; factor X-Riyadh ; Female ; Genotype ; Glutamic Acid ; Humans ; Lysine ; Male ; Middle Aged ; mutation ; Mutation, Missense ; Partial Thromboplastin Time ; Pedigree ; Phenotype ; Prothrombin Time ; Saudi Arabia</subject><ispartof>Thrombosis and haemostasis, 2007-04, Vol.97 (4), p.542-545</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c547t-f23f6d78f2c7d39e8a1946d1ab045a433745547ef28918933c2bab113ce93dd63</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1160/TH06-09-0532.pdf$$EPDF$$P50$$Gthieme$$H</linktopdf><linktohtml>$$Uhttps://www.thieme-connect.de/products/ejournals/html/10.1160/TH06-09-0532$$EHTML$$P50$$Gthieme$$H</linktohtml><link.rule.ids>314,780,784,3016,27923,27924,54558,54559</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17393015$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Akram Al-Hilali</creatorcontrib><creatorcontrib>Karin Wulff</creatorcontrib><creatorcontrib>Hikmat Abdel-Razeq</creatorcontrib><creatorcontrib>Khalida Abu Saud</creatorcontrib><creatorcontrib>Fateh Al-Gaili</creatorcontrib><creatorcontrib>Falko H. Herrmann</creatorcontrib><title>Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly</title><title>Thrombosis and haemostasis</title><addtitle>Thromb Haemost</addtitle><description>Summary
Two families with 'factor X(FX)-Riyadh' have been identified (one of them related to the originally reported family). Affected members of both families exhibit prolongation in prothrombin time (PT) with normal partial thromboplastin time (PTT) and low assay levels of FX, when measured by PT-based assay. They do not have clinical bleeding diathesis, regardless of the PT prolongation. FX genes of the affected family members were analyzed by sequence analysis. A novel missense mutation in exon 4 of the FX gene, which causes the Glu51Lys substitution in the first epidermal growth factor-like domain of FX was found. The Glu51Lys mutation represents a type II mutation with low FX coagulant activity in the extrinsic pathway and normal FX antigen levels. This mutation may result in disruption of the predicted H-bonding between residue Glu51 of FX and the Asn199 residue of the tissue factor (TF) in the FX/TF/factorVIIa ternary complex, producing the phenotype 'FX deficiency Riyadh', with prolonged PT and normal PTT.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Blood Coagulation, Fibrinolysis and Cellular Haemostasis</subject><subject>Child</subject><subject>DNA Mutational Analysis</subject><subject>exon 4</subject><subject>Exons</subject><subject>Factor X - genetics</subject><subject>Factor X - metabolism</subject><subject>Factor X Deficiency - blood</subject><subject>Factor X Deficiency - genetics</subject><subject>factor X-Riyadh</subject><subject>Female</subject><subject>Genotype</subject><subject>Glutamic Acid</subject><subject>Humans</subject><subject>Lysine</subject><subject>Male</subject><subject>Middle Aged</subject><subject>mutation</subject><subject>Mutation, Missense</subject><subject>Partial Thromboplastin Time</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Prothrombin Time</subject><subject>Saudi Arabia</subject><issn>0340-6245</issn><issn>2567-689X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNq1kcFrFDEUh4Modq3ePEtOXnQ0mUwyk2Mp2goLglToLWQyb0zKJFmTTJf9751hl3rSU3t6hPfl94PvIfSWkk-UCvL55pqIisiKcFY_Q5uai7YSnbx9jjaENaQSdcPP0Kuc7wihopH8JTqjLZOMUL5B_UXQ0yG7jOOIiwUc4j1MeNSmxIRv8S8IgP1cdHEx4Ktp5nR7yNgFXPZxwbybHGS8d8U-fKp-uIMeLNYh-iX8NXox6inDm9M8Rz-_frm5vK6236--XV5sK8ObtlRjzUYxtN1Ym3ZgEjpNZSMGqnvScN0w1jZ8AWGsO0k7yZipe91TygxINgyCnaP3x9xdir9nyEV5lw1Mkw4Q56xawmpekxX8eARNijknGNUuOa_TQVGiVqdqdaqIVKvTBX93yp17D8Nf-CRxAT4cgWIdeFB3cU6L1fyvOHeks7G6FD1DeogsNkXfx-UcSodBWQ0-5qLXt4mhQCjLIhnr7kG5nGdQLWuU12HOJrldUa2UQmUb98oWPy1d_hG78g6M09N_-8zT97E_NN37_Q</recordid><startdate>20070401</startdate><enddate>20070401</enddate><creator>Akram Al-Hilali</creator><creator>Karin Wulff</creator><creator>Hikmat Abdel-Razeq</creator><creator>Khalida Abu Saud</creator><creator>Fateh Al-Gaili</creator><creator>Falko H. Herrmann</creator><general>Schattauer Verlag für Medizin und Naturwissenschaften</general><general>Schattauer GmbH</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20070401</creationdate><title>Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly</title><author>Akram Al-Hilali ; Karin Wulff ; Hikmat Abdel-Razeq ; Khalida Abu Saud ; Fateh Al-Gaili ; Falko H. Herrmann</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c547t-f23f6d78f2c7d39e8a1946d1ab045a433745547ef28918933c2bab113ce93dd63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Blood Coagulation, Fibrinolysis and Cellular Haemostasis</topic><topic>Child</topic><topic>DNA Mutational Analysis</topic><topic>exon 4</topic><topic>Exons</topic><topic>Factor X - genetics</topic><topic>Factor X - metabolism</topic><topic>Factor X Deficiency - blood</topic><topic>Factor X Deficiency - genetics</topic><topic>factor X-Riyadh</topic><topic>Female</topic><topic>Genotype</topic><topic>Glutamic Acid</topic><topic>Humans</topic><topic>Lysine</topic><topic>Male</topic><topic>Middle Aged</topic><topic>mutation</topic><topic>Mutation, Missense</topic><topic>Partial Thromboplastin Time</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Prothrombin Time</topic><topic>Saudi Arabia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Akram Al-Hilali</creatorcontrib><creatorcontrib>Karin Wulff</creatorcontrib><creatorcontrib>Hikmat Abdel-Razeq</creatorcontrib><creatorcontrib>Khalida Abu Saud</creatorcontrib><creatorcontrib>Fateh Al-Gaili</creatorcontrib><creatorcontrib>Falko H. Herrmann</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Thrombosis and haemostasis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Akram Al-Hilali</au><au>Karin Wulff</au><au>Hikmat Abdel-Razeq</au><au>Khalida Abu Saud</au><au>Fateh Al-Gaili</au><au>Falko H. Herrmann</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly</atitle><jtitle>Thrombosis and haemostasis</jtitle><addtitle>Thromb Haemost</addtitle><date>2007-04-01</date><risdate>2007</risdate><volume>97</volume><issue>4</issue><spage>542</spage><epage>545</epage><pages>542-545</pages><issn>0340-6245</issn><eissn>2567-689X</eissn><abstract>Summary
Two families with 'factor X(FX)-Riyadh' have been identified (one of them related to the originally reported family). Affected members of both families exhibit prolongation in prothrombin time (PT) with normal partial thromboplastin time (PTT) and low assay levels of FX, when measured by PT-based assay. They do not have clinical bleeding diathesis, regardless of the PT prolongation. FX genes of the affected family members were analyzed by sequence analysis. A novel missense mutation in exon 4 of the FX gene, which causes the Glu51Lys substitution in the first epidermal growth factor-like domain of FX was found. The Glu51Lys mutation represents a type II mutation with low FX coagulant activity in the extrinsic pathway and normal FX antigen levels. This mutation may result in disruption of the predicted H-bonding between residue Glu51 of FX and the Asn199 residue of the tissue factor (TF) in the FX/TF/factorVIIa ternary complex, producing the phenotype 'FX deficiency Riyadh', with prolonged PT and normal PTT.</abstract><cop>Germany</cop><pub>Schattauer Verlag für Medizin und Naturwissenschaften</pub><pmid>17393015</pmid><doi>10.1160/TH06-09-0532</doi><tpages>4</tpages></addata></record> |
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| ispartof | Thrombosis and haemostasis, 2007-04, Vol.97 (4), p.542-545 |
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| language | eng |
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| source | MEDLINE; Thieme Connect Journals |
| subjects | Adolescent Adult Aged Blood Coagulation, Fibrinolysis and Cellular Haemostasis Child DNA Mutational Analysis exon 4 Exons Factor X - genetics Factor X - metabolism Factor X Deficiency - blood Factor X Deficiency - genetics factor X-Riyadh Female Genotype Glutamic Acid Humans Lysine Male Middle Aged mutation Mutation, Missense Partial Thromboplastin Time Pedigree Phenotype Prothrombin Time Saudi Arabia |
| title | Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly |
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