Compound-Heterozygous Mutations in the Plasminogen Gene Predispose to the Development of Ligneous Conjunctivitis
Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than...
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| Veröffentlicht in: | Blood 1999-05, Vol.93 (10), p.3457-3466 |
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| creator | Schuster, Volker Seidenspinner, Silvia Zeitler, Petra Escher, Cornelia Pleyer, Uwe Bernauer, Wolfgang Stiehm, E. Richard Isenberg, Sherwin Seregard, Stefan Olsson, Thomas Mingers, Anne-Marie Schambeck, Christian Kreth, Hans Wolfgang |
| description | Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%, respectively. These subjects were compound-heterozygotes for different missense mutations in the plasminogen gene: Lys19 → Glu/Arg513 → His, Lys19 → Glu/Arg216 → His, and Lys19 → Glu/Leu128 → Pro, respectively. The other 2 patients, a 14-year-old boy and his 19-year-old sister, who both presented with a severe course of the disease, exhibited plasminogen antigen and functional activity levels below the detection limit ( |
| doi_str_mv | 10.1182/blood.V93.10.3457.410k03_3457_3466 |
| format | Article |
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Richard ; Isenberg, Sherwin ; Seregard, Stefan ; Olsson, Thomas ; Mingers, Anne-Marie ; Schambeck, Christian ; Kreth, Hans Wolfgang</creator><creatorcontrib>Schuster, Volker ; Seidenspinner, Silvia ; Zeitler, Petra ; Escher, Cornelia ; Pleyer, Uwe ; Bernauer, Wolfgang ; Stiehm, E. Richard ; Isenberg, Sherwin ; Seregard, Stefan ; Olsson, Thomas ; Mingers, Anne-Marie ; Schambeck, Christian ; Kreth, Hans Wolfgang</creatorcontrib><description>Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%, respectively. These subjects were compound-heterozygotes for different missense mutations in the plasminogen gene: Lys19 → Glu/Arg513 → His, Lys19 → Glu/Arg216 → His, and Lys19 → Glu/Leu128 → Pro, respectively. The other 2 patients, a 14-year-old boy and his 19-year-old sister, who both presented with a severe course of the disease, exhibited plasminogen antigen and functional activity levels below the detection limit (<0.4 mg/dL and <5%, respectively). These subjects were compound-heterozygotes for a deletion mutation (del Lys212) and a splice site mutation in intron Q (Ex17 + 1del-g) in the plasminogen gene. These findings show that certain compound-heterozygous mutations in the plasminogen gene may be associated with ligneous conjunctivitis. Our findings also suggest that the severity of clinical symptoms of ligneous conjunctivitis and its associated complications may depend on the amount of plasminogen functional residual activity.</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>DOI: 10.1182/blood.V93.10.3457.410k03_3457_3466</identifier><identifier>PMID: 10233898</identifier><language>eng</language><publisher>Washington, DC: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Aged ; Alleles ; Amino Acid Substitution ; Biological and medical sciences ; Blood Coagulation Tests ; Child, Preschool ; Conjunctivitis - blood ; Conjunctivitis - genetics ; Conjunctivitis - pathology ; Diseases of eyelid, conjunctiva and lacrimal tracts ; Exons ; Female ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Male ; Medical sciences ; Medicin och hälsovetenskap ; Mutation ; Mutation, Missense ; Ophthalmology ; Pedigree ; Plasminogen - genetics ; Sequence Deletion</subject><ispartof>Blood, 1999-05, Vol.93 (10), p.3457-3466</ispartof><rights>1999 American Society of Hematology</rights><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c516t-74a772a825cb3f43b955d46407bb59a87f394a7b78b85f5adc0bfb9290f598783</citedby><cites>FETCH-LOGICAL-c516t-74a772a825cb3f43b955d46407bb59a87f394a7b78b85f5adc0bfb9290f598783</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,309,310,314,780,784,789,790,885,23930,23931,25140,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1795124$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10233898$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:15698959$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Schuster, Volker</creatorcontrib><creatorcontrib>Seidenspinner, Silvia</creatorcontrib><creatorcontrib>Zeitler, Petra</creatorcontrib><creatorcontrib>Escher, Cornelia</creatorcontrib><creatorcontrib>Pleyer, Uwe</creatorcontrib><creatorcontrib>Bernauer, Wolfgang</creatorcontrib><creatorcontrib>Stiehm, E. Richard</creatorcontrib><creatorcontrib>Isenberg, Sherwin</creatorcontrib><creatorcontrib>Seregard, Stefan</creatorcontrib><creatorcontrib>Olsson, Thomas</creatorcontrib><creatorcontrib>Mingers, Anne-Marie</creatorcontrib><creatorcontrib>Schambeck, Christian</creatorcontrib><creatorcontrib>Kreth, Hans Wolfgang</creatorcontrib><title>Compound-Heterozygous Mutations in the Plasminogen Gene Predispose to the Development of Ligneous Conjunctivitis</title><title>Blood</title><addtitle>Blood</addtitle><description>Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%, respectively. These subjects were compound-heterozygotes for different missense mutations in the plasminogen gene: Lys19 → Glu/Arg513 → His, Lys19 → Glu/Arg216 → His, and Lys19 → Glu/Leu128 → Pro, respectively. The other 2 patients, a 14-year-old boy and his 19-year-old sister, who both presented with a severe course of the disease, exhibited plasminogen antigen and functional activity levels below the detection limit (<0.4 mg/dL and <5%, respectively). These subjects were compound-heterozygotes for a deletion mutation (del Lys212) and a splice site mutation in intron Q (Ex17 + 1del-g) in the plasminogen gene. These findings show that certain compound-heterozygous mutations in the plasminogen gene may be associated with ligneous conjunctivitis. Our findings also suggest that the severity of clinical symptoms of ligneous conjunctivitis and its associated complications may depend on the amount of plasminogen functional residual activity.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Alleles</subject><subject>Amino Acid Substitution</subject><subject>Biological and medical sciences</subject><subject>Blood Coagulation Tests</subject><subject>Child, Preschool</subject><subject>Conjunctivitis - blood</subject><subject>Conjunctivitis - genetics</subject><subject>Conjunctivitis - pathology</subject><subject>Diseases of eyelid, conjunctiva and lacrimal tracts</subject><subject>Exons</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicin och hälsovetenskap</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Ophthalmology</subject><subject>Pedigree</subject><subject>Plasminogen - genetics</subject><subject>Sequence Deletion</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkcGP1CAYxYnRuLOr_4LpwZNJR2hLgaPO6q7JGD2oVwL068huBxqgY9a_ful0dI2JBy_w5eX33kd4CL0ieE0Ir17rwftu_U3U66zUDWXrhuBbXMt5zkfbPkIrQiteYlzhx2iFMW7LRjByhs5jvMGYNHVFn6Izgqu65oKv0Ljx-9FPriuvIUHwP-92forFxympZL2LhXVF-g7F50HFvXV-B664ApeFAJ2No49QJH9ELuEAgx_34FLh-2Jrdw7mrI13N5MzyR5ssvEZetKrIcLz032Bvr5_92VzXW4_XX3YvNmWhpI2laxRjFWKV9Toum9qLSjtmrbBTGsqFGd9LTKiGdec9lR1Butei0rgngrOeH2ByiU3_oBx0nIMdq_CnfTKypN0myeQLaZUiMzzf_Jj8N2D6ZeR0FZwQWfr28Vqgo8xQP_bTLCcm5PH5mRublaObf3dXA55sYTkJXvo_ohYqsrAyxOgolFDH5QzNj5wTFBSNRnbLhjkzz1YCDIaC87ktgKYJDtv_-dZ90NHwVA</recordid><startdate>19990515</startdate><enddate>19990515</enddate><creator>Schuster, Volker</creator><creator>Seidenspinner, Silvia</creator><creator>Zeitler, Petra</creator><creator>Escher, Cornelia</creator><creator>Pleyer, Uwe</creator><creator>Bernauer, Wolfgang</creator><creator>Stiehm, E. 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Richard</creatorcontrib><creatorcontrib>Isenberg, Sherwin</creatorcontrib><creatorcontrib>Seregard, Stefan</creatorcontrib><creatorcontrib>Olsson, Thomas</creatorcontrib><creatorcontrib>Mingers, Anne-Marie</creatorcontrib><creatorcontrib>Schambeck, Christian</creatorcontrib><creatorcontrib>Kreth, Hans Wolfgang</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><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>SwePub</collection><collection>SwePub Articles</collection><collection>SwePub Conference</collection><jtitle>Blood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schuster, Volker</au><au>Seidenspinner, Silvia</au><au>Zeitler, Petra</au><au>Escher, Cornelia</au><au>Pleyer, Uwe</au><au>Bernauer, Wolfgang</au><au>Stiehm, E. Richard</au><au>Isenberg, Sherwin</au><au>Seregard, Stefan</au><au>Olsson, Thomas</au><au>Mingers, Anne-Marie</au><au>Schambeck, Christian</au><au>Kreth, Hans Wolfgang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Compound-Heterozygous Mutations in the Plasminogen Gene Predispose to the Development of Ligneous Conjunctivitis</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>1999-05-15</date><risdate>1999</risdate><volume>93</volume><issue>10</issue><spage>3457</spage><epage>3466</epage><pages>3457-3466</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%, respectively. These subjects were compound-heterozygotes for different missense mutations in the plasminogen gene: Lys19 → Glu/Arg513 → His, Lys19 → Glu/Arg216 → His, and Lys19 → Glu/Leu128 → Pro, respectively. The other 2 patients, a 14-year-old boy and his 19-year-old sister, who both presented with a severe course of the disease, exhibited plasminogen antigen and functional activity levels below the detection limit (<0.4 mg/dL and <5%, respectively). These subjects were compound-heterozygotes for a deletion mutation (del Lys212) and a splice site mutation in intron Q (Ex17 + 1del-g) in the plasminogen gene. These findings show that certain compound-heterozygous mutations in the plasminogen gene may be associated with ligneous conjunctivitis. Our findings also suggest that the severity of clinical symptoms of ligneous conjunctivitis and its associated complications may depend on the amount of plasminogen functional residual activity.</abstract><cop>Washington, DC</cop><pub>Elsevier Inc</pub><pmid>10233898</pmid><doi>10.1182/blood.V93.10.3457.410k03_3457_3466</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adolescent Adult Aged Alleles Amino Acid Substitution Biological and medical sciences Blood Coagulation Tests Child, Preschool Conjunctivitis - blood Conjunctivitis - genetics Conjunctivitis - pathology Diseases of eyelid, conjunctiva and lacrimal tracts Exons Female Genetic Predisposition to Disease Heterozygote Humans Male Medical sciences Medicin och hälsovetenskap Mutation Mutation, Missense Ophthalmology Pedigree Plasminogen - genetics Sequence Deletion |
| title | Compound-Heterozygous Mutations in the Plasminogen Gene Predispose to the Development of Ligneous Conjunctivitis |
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