A less severe form of Haemophilia B Leyden
Haemophilia B is an inherited, X-linked coagulation disorder, caused by mutations in the gene for clotting factor IX. The condition is heterogeneous and many of the causative mutations have been identified. The clinical severity of the disorder depends on the nature of the mutation. One rare form of...
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| Veröffentlicht in: | Nucleic acids research 1990-08, Vol.18 (15), p.4633-4633 |
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| creator | CROSSLEY, M WINSHIP, P. R AUSTEN, D. E. G RIZZA, C. R BROWNLEE, G. G |
| description | Haemophilia B is an inherited, X-linked coagulation disorder, caused by mutations in the gene for clotting factor IX. The condition is heterogeneous and many of the causative mutations have been identified. The clinical severity of the disorder depends on the nature of the mutation. One rare form of haemophilia B, first identified in a Dutch family, and referred to as Haemophilia B Leyden is characterized by severe haemophilia in childhood progressing to a mild or an asymptomatic condition after puberty. Accordingly these patients are found to have low or undetectable concentrations of factor IX in plasma before puberty (typically |
| doi_str_mv | 10.1093/nar/18.15.4633 |
| format | Article |
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R ; AUSTEN, D. E. G ; RIZZA, C. R ; BROWNLEE, G. G</creator><creatorcontrib>CROSSLEY, M ; WINSHIP, P. R ; AUSTEN, D. E. G ; RIZZA, C. R ; BROWNLEE, G. G</creatorcontrib><description>Haemophilia B is an inherited, X-linked coagulation disorder, caused by mutations in the gene for clotting factor IX. The condition is heterogeneous and many of the causative mutations have been identified. The clinical severity of the disorder depends on the nature of the mutation. One rare form of haemophilia B, first identified in a Dutch family, and referred to as Haemophilia B Leyden is characterized by severe haemophilia in childhood progressing to a mild or an asymptomatic condition after puberty. Accordingly these patients are found to have low or undetectable concentrations of factor IX in plasma before puberty (typically <1% of normal) and much higher levels thereafter (up to around 50% of normal). This condition arises from reduced expression of factor IX and has been shown to be associated with a mutation in the promoter, namely a T arrow right A change at nucleotide -20. Here we describe a related condition, similar to but less severe than haemophilia B Leyden and caused by a different mutation, namely a G arrow right A at -6. On the basis of these results we propose that this be recognized as a distinct form of Haemophilia B, which we refer to as Haemophilia B High Wycombe.</description><identifier>ISSN: 0305-1048</identifier><identifier>EISSN: 1362-4962</identifier><identifier>DOI: 10.1093/nar/18.15.4633</identifier><identifier>PMID: 2388855</identifier><identifier>CODEN: NARHAD</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Base Sequence ; Biological and medical sciences ; Factor IX - genetics ; Hematologic and hematopoietic diseases ; Hemophilia B - genetics ; Humans ; Male ; Medical sciences ; Molecular Sequence Data ; Mutation ; Platelet diseases and coagulopathies ; Polymerase Chain Reaction ; Promoter Regions, Genetic</subject><ispartof>Nucleic acids research, 1990-08, Vol.18 (15), p.4633-4633</ispartof><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c476t-ac86a96a0974d7e7c3dfb7801203c93ec21a7be852deb16c3d068ffe463ebccb3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC331323/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC331323/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19413438$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2388855$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>CROSSLEY, M</creatorcontrib><creatorcontrib>WINSHIP, P. R</creatorcontrib><creatorcontrib>AUSTEN, D. E. G</creatorcontrib><creatorcontrib>RIZZA, C. R</creatorcontrib><creatorcontrib>BROWNLEE, G. G</creatorcontrib><title>A less severe form of Haemophilia B Leyden</title><title>Nucleic acids research</title><addtitle>Nucleic Acids Res</addtitle><description>Haemophilia B is an inherited, X-linked coagulation disorder, caused by mutations in the gene for clotting factor IX. The condition is heterogeneous and many of the causative mutations have been identified. The clinical severity of the disorder depends on the nature of the mutation. One rare form of haemophilia B, first identified in a Dutch family, and referred to as Haemophilia B Leyden is characterized by severe haemophilia in childhood progressing to a mild or an asymptomatic condition after puberty. Accordingly these patients are found to have low or undetectable concentrations of factor IX in plasma before puberty (typically <1% of normal) and much higher levels thereafter (up to around 50% of normal). This condition arises from reduced expression of factor IX and has been shown to be associated with a mutation in the promoter, namely a T arrow right A change at nucleotide -20. Here we describe a related condition, similar to but less severe than haemophilia B Leyden and caused by a different mutation, namely a G arrow right A at -6. On the basis of these results we propose that this be recognized as a distinct form of Haemophilia B, which we refer to as Haemophilia B High Wycombe.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Factor IX - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemophilia B - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Platelet diseases and coagulopathies</subject><subject>Polymerase Chain Reaction</subject><subject>Promoter Regions, Genetic</subject><issn>0305-1048</issn><issn>1362-4962</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1990</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkb1PG0EQxVdREDEkLR3SNUkR6czOzn4WFA4KAckSTVKv9vbm4kP3YXZtJP57zsIySeVqivd7T2_0GLsAPgfu8GoI6QrsHNRcasQPbAaoRSmdFh_ZjCNXJXBpP7GznB85BwlKnrJTgdZapWbs-6LoKOci0zMlKpox9cXYFHeB-nG9ars2FD-KJb3UNHxmJ03oMn3Z33P25_bn75u7cvnw6_5msSyjNHpThmh1cDpwZ2RtyESsm8pYDoJjdEhRQDAVWSVqqkBPMte2aWiqT1WMFZ6z67fc9bbqqY40bFLo_Dq1fUgvfgyt_18Z2pX_Oz57RECBk__b3p_Gpy3lje_bHKnrwkDjNnvjnEJn-FEQHCoJUh0HtRFcCzOB8zcwpjHnRM2hNXC_m8tPc3mwHpTfzTUZLv_99YDv95n0r3s95Bi6JoUhtvk91UlAiRZfAR4AnUQ</recordid><startdate>19900811</startdate><enddate>19900811</enddate><creator>CROSSLEY, M</creator><creator>WINSHIP, P. R</creator><creator>AUSTEN, D. E. G</creator><creator>RIZZA, C. R</creator><creator>BROWNLEE, G. G</creator><general>Oxford University Press</general><scope>IQODW</scope><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7TM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19900811</creationdate><title>A less severe form of Haemophilia B Leyden</title><author>CROSSLEY, M ; WINSHIP, P. R ; AUSTEN, D. E. G ; RIZZA, C. R ; BROWNLEE, G. G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c476t-ac86a96a0974d7e7c3dfb7801203c93ec21a7be852deb16c3d068ffe463ebccb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1990</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Factor IX - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemophilia B - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Platelet diseases and coagulopathies</topic><topic>Polymerase Chain Reaction</topic><topic>Promoter Regions, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>CROSSLEY, M</creatorcontrib><creatorcontrib>WINSHIP, P. R</creatorcontrib><creatorcontrib>AUSTEN, D. E. G</creatorcontrib><creatorcontrib>RIZZA, C. R</creatorcontrib><creatorcontrib>BROWNLEE, G. G</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Nucleic acids research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>CROSSLEY, M</au><au>WINSHIP, P. R</au><au>AUSTEN, D. E. G</au><au>RIZZA, C. R</au><au>BROWNLEE, G. G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A less severe form of Haemophilia B Leyden</atitle><jtitle>Nucleic acids research</jtitle><addtitle>Nucleic Acids Res</addtitle><date>1990-08-11</date><risdate>1990</risdate><volume>18</volume><issue>15</issue><spage>4633</spage><epage>4633</epage><pages>4633-4633</pages><issn>0305-1048</issn><eissn>1362-4962</eissn><coden>NARHAD</coden><abstract>Haemophilia B is an inherited, X-linked coagulation disorder, caused by mutations in the gene for clotting factor IX. The condition is heterogeneous and many of the causative mutations have been identified. The clinical severity of the disorder depends on the nature of the mutation. One rare form of haemophilia B, first identified in a Dutch family, and referred to as Haemophilia B Leyden is characterized by severe haemophilia in childhood progressing to a mild or an asymptomatic condition after puberty. Accordingly these patients are found to have low or undetectable concentrations of factor IX in plasma before puberty (typically <1% of normal) and much higher levels thereafter (up to around 50% of normal). This condition arises from reduced expression of factor IX and has been shown to be associated with a mutation in the promoter, namely a T arrow right A change at nucleotide -20. Here we describe a related condition, similar to but less severe than haemophilia B Leyden and caused by a different mutation, namely a G arrow right A at -6. On the basis of these results we propose that this be recognized as a distinct form of Haemophilia B, which we refer to as Haemophilia B High Wycombe.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>2388855</pmid><doi>10.1093/nar/18.15.4633</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | MEDLINE; Oxford University Press Journals Digital Archive Legacy; PubMed Central |
| subjects | Base Sequence Biological and medical sciences Factor IX - genetics Hematologic and hematopoietic diseases Hemophilia B - genetics Humans Male Medical sciences Molecular Sequence Data Mutation Platelet diseases and coagulopathies Polymerase Chain Reaction Promoter Regions, Genetic |
| title | A less severe form of Haemophilia B Leyden |
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