Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome
Unidad de Coagulopatias Congenitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain. espinos@uv.es Hemophilia B (factor IX deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C&...
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| Veröffentlicht in: | Haematologica (Roma) 2000-10, Vol.85 (10), p.1092-1095 |
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| creator | Espinos, C Lorenzo, JI Casana, P Martinez, F Aznar, JA |
| description | Unidad de Coagulopatias Congenitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain. espinos@uv.es
Hemophilia B (factor IX deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C>G) of the factor IX (FIX) gene was characterized in a young female with moderate-to-severe hemophilia B. She is heterozygous for this mutation, which she inherited from her carrier mother. Analysis of the methyl-sensitive HpaII sites in the first exon of the human androgen-receptor locus indicated a de novo skewed X-chromosomal inactivation. This indicates that the paternal X-chromosome carrying her normal FIX gene is the inactive one, which has led to the phenotypic expression of hemophilia B in this patient. |
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Hemophilia B (factor IX deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C>G) of the factor IX (FIX) gene was characterized in a young female with moderate-to-severe hemophilia B. She is heterozygous for this mutation, which she inherited from her carrier mother. Analysis of the methyl-sensitive HpaII sites in the first exon of the human androgen-receptor locus indicated a de novo skewed X-chromosomal inactivation. This indicates that the paternal X-chromosome carrying her normal FIX gene is the inactive one, which has led to the phenotypic expression of hemophilia B in this patient.</description><identifier>ISSN: 0390-6078</identifier><identifier>EISSN: 1592-8721</identifier><identifier>PMID: 11025603</identifier><language>eng</language><publisher>Pavia: Haematologica</publisher><subject>Biological and medical sciences ; Dosage Compensation, Genetic ; Female ; Hematologic and hematopoietic diseases ; Hemophilia B - complications ; Hemophilia B - etiology ; Hemophilia B - genetics ; Hemophilia B - therapy ; Humans ; Infant ; Lung Transplantation ; Male ; Medical sciences ; Pedigree ; Platelet diseases and coagulopathies ; Prothrombin - therapeutic use ; Pulmonary Fibrosis - etiology ; Pulmonary Fibrosis - surgery</subject><ispartof>Haematologica (Roma), 2000-10, Vol.85 (10), p.1092-1095</ispartof><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=829102$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11025603$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Espinos, C</creatorcontrib><creatorcontrib>Lorenzo, JI</creatorcontrib><creatorcontrib>Casana, P</creatorcontrib><creatorcontrib>Martinez, F</creatorcontrib><creatorcontrib>Aznar, JA</creatorcontrib><title>Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome</title><title>Haematologica (Roma)</title><addtitle>Haematologica</addtitle><description>Unidad de Coagulopatias Congenitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain. espinos@uv.es
Hemophilia B (factor IX deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C>G) of the factor IX (FIX) gene was characterized in a young female with moderate-to-severe hemophilia B. She is heterozygous for this mutation, which she inherited from her carrier mother. Analysis of the methyl-sensitive HpaII sites in the first exon of the human androgen-receptor locus indicated a de novo skewed X-chromosomal inactivation. This indicates that the paternal X-chromosome carrying her normal FIX gene is the inactive one, which has led to the phenotypic expression of hemophilia B in this patient.</description><subject>Biological and medical sciences</subject><subject>Dosage Compensation, Genetic</subject><subject>Female</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemophilia B - complications</subject><subject>Hemophilia B - etiology</subject><subject>Hemophilia B - genetics</subject><subject>Hemophilia B - therapy</subject><subject>Humans</subject><subject>Infant</subject><subject>Lung Transplantation</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pedigree</subject><subject>Platelet diseases and coagulopathies</subject><subject>Prothrombin - therapeutic use</subject><subject>Pulmonary Fibrosis - etiology</subject><subject>Pulmonary Fibrosis - surgery</subject><issn>0390-6078</issn><issn>1592-8721</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo90FFLwzAQB_AgipvTryABQZ8KybVrmkcd6oSBIAq-lUua2GjbzKa17Nsb2BQO7h5-_I-7IzLnSwlJIYAfkzlLJUtyJooZOQvhkzFgUopTMuOcwTJn6Zy8rNG0flu7xiG9o66jSK1psTFU4xhMRdWOhi8zxcl1qAf3g4PzHfWWDrWhne8jpu-Jrnvf-uBbc05OLDbBXBz6grw93L-u1snm-fFpdbtJasjFkKQ81ZYXBaiC2VxnilUyw1whYJoB47kBkVlVVZothczACiUYr1jFAWWmIF2Q633utvffowlD2bqgTdNgZ_wYSgEpxE15hJcHOKrWVOW2dy32u_LvCxFcHQAGjY3tsdMu_LsCZJRR3exV7T7qyfWmDPH0JoZCOU1TsSw5iyUh_QXfP3Kp</recordid><startdate>20001001</startdate><enddate>20001001</enddate><creator>Espinos, C</creator><creator>Lorenzo, JI</creator><creator>Casana, P</creator><creator>Martinez, F</creator><creator>Aznar, JA</creator><general>Haematologica</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20001001</creationdate><title>Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome</title><author>Espinos, C ; Lorenzo, JI ; Casana, P ; Martinez, F ; Aznar, JA</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-h267t-313cf1882b80f6c4b0d94a6ba2a342016e274fbddc057942f7b701d0d12a94b23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Biological and medical sciences</topic><topic>Dosage Compensation, Genetic</topic><topic>Female</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemophilia B - complications</topic><topic>Hemophilia B - etiology</topic><topic>Hemophilia B - genetics</topic><topic>Hemophilia B - therapy</topic><topic>Humans</topic><topic>Infant</topic><topic>Lung Transplantation</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Pedigree</topic><topic>Platelet diseases and coagulopathies</topic><topic>Prothrombin - therapeutic use</topic><topic>Pulmonary Fibrosis - etiology</topic><topic>Pulmonary Fibrosis - surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Espinos, C</creatorcontrib><creatorcontrib>Lorenzo, JI</creatorcontrib><creatorcontrib>Casana, P</creatorcontrib><creatorcontrib>Martinez, F</creatorcontrib><creatorcontrib>Aznar, JA</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>MEDLINE - Academic</collection><jtitle>Haematologica (Roma)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Espinos, C</au><au>Lorenzo, JI</au><au>Casana, P</au><au>Martinez, F</au><au>Aznar, JA</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome</atitle><jtitle>Haematologica (Roma)</jtitle><addtitle>Haematologica</addtitle><date>2000-10-01</date><risdate>2000</risdate><volume>85</volume><issue>10</issue><spage>1092</spage><epage>1095</epage><pages>1092-1095</pages><issn>0390-6078</issn><eissn>1592-8721</eissn><abstract>Unidad de Coagulopatias Congenitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain. espinos@uv.es
Hemophilia B (factor IX deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C>G) of the factor IX (FIX) gene was characterized in a young female with moderate-to-severe hemophilia B. She is heterozygous for this mutation, which she inherited from her carrier mother. Analysis of the methyl-sensitive HpaII sites in the first exon of the human androgen-receptor locus indicated a de novo skewed X-chromosomal inactivation. This indicates that the paternal X-chromosome carrying her normal FIX gene is the inactive one, which has led to the phenotypic expression of hemophilia B in this patient.</abstract><cop>Pavia</cop><pub>Haematologica</pub><pmid>11025603</pmid><tpages>4</tpages></addata></record> |
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| source | MEDLINE; DOAJ Directory of Open Access Journals |
| subjects | Biological and medical sciences Dosage Compensation, Genetic Female Hematologic and hematopoietic diseases Hemophilia B - complications Hemophilia B - etiology Hemophilia B - genetics Hemophilia B - therapy Humans Infant Lung Transplantation Male Medical sciences Pedigree Platelet diseases and coagulopathies Prothrombin - therapeutic use Pulmonary Fibrosis - etiology Pulmonary Fibrosis - surgery |
| title | Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome |
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