Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis
The molecular genetic diagnosis of Wilson's disease in the 5-year-old sister of a patient with Wilson's disease is reported. The girl was clinically free of disease and had no conventional biochemical markers of Wilson's disease (i.e., normal ceruloplasmin, normal copper in the serum,...
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| Veröffentlicht in: | Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 1995-12, Vol.109 (6), p.2015-2018 |
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| container_issue | 6 |
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| container_title | Gastroenterology (New York, N.Y. 1943) |
| container_volume | 109 |
| creator | Maier-Dobersberger, Theresia Mannhalter, Christine Rack, Sabine Granditsch, Gerhard Kaserer, Klaus Korninger, Lisa Steindl, Petra Gangl, Alfred Ferenci, Peter |
| description | The molecular genetic diagnosis of Wilson's disease in the 5-year-old sister of a patient with Wilson's disease is reported. The girl was clinically free of disease and had no conventional biochemical markers of Wilson's disease (i.e., normal ceruloplasmin, normal copper in the serum, normal 24-hour urinary copper excretion). Diagnosis with restriction fragment length polymorphisms and a nonradioactive polymerase chain reaction-based analysis with microsatellite markers showed her to be homozygous for the disease-associated markers. A liver biopsy was performed, and a 20-fold increased liver copper content confirmed the diagnosis. The child was treated with chelation therapy with
d-penicillamine. The report of this study clearly shows the advantage of DNA linkage analysis (especially polymerase chain reaction) over conventional laboratory methods for presymptomatic diagnosis of Wilson's disease before irreparable liver and neurological damage occurs. The only limitation of this DNA-based diagnosis is the fact that it is only applicable in siblings of an index patient whose diagnosis was made by phenotypic criteria. |
| doi_str_mv | 10.1016/0016-5085(95)90771-8 |
| format | Article |
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d-penicillamine. The report of this study clearly shows the advantage of DNA linkage analysis (especially polymerase chain reaction) over conventional laboratory methods for presymptomatic diagnosis of Wilson's disease before irreparable liver and neurological damage occurs. The only limitation of this DNA-based diagnosis is the fact that it is only applicable in siblings of an index patient whose diagnosis was made by phenotypic criteria.</description><identifier>ISSN: 0016-5085</identifier><identifier>EISSN: 1528-0012</identifier><identifier>DOI: 10.1016/0016-5085(95)90771-8</identifier><identifier>PMID: 7498669</identifier><identifier>CODEN: GASTAB</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adult ; Biological and medical sciences ; Biopsy ; Child ; Child, Preschool ; Copper - analysis ; DNA - analysis ; Errors of metabolism ; Family Health ; Female ; Genetic Linkage ; Hepatolenticular Degeneration - diagnosis ; Hepatolenticular Degeneration - genetics ; Hepatolenticular Degeneration - metabolism ; Humans ; Liver - chemistry ; Liver - pathology ; Male ; Medical sciences ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; restriction fragment length polymorphism</subject><ispartof>Gastroenterology (New York, N.Y. 1943), 1995-12, Vol.109 (6), p.2015-2018</ispartof><rights>1995</rights><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c527t-c8cff8386813b5d79a553d643ece0ea92e86933062e55564f37bdb6c34ee75b33</citedby><cites>FETCH-LOGICAL-c527t-c8cff8386813b5d79a553d643ece0ea92e86933062e55564f37bdb6c34ee75b33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0016-5085(95)90771-8$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3548,27922,27923,45993</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2917578$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7498669$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Maier-Dobersberger, Theresia</creatorcontrib><creatorcontrib>Mannhalter, Christine</creatorcontrib><creatorcontrib>Rack, Sabine</creatorcontrib><creatorcontrib>Granditsch, Gerhard</creatorcontrib><creatorcontrib>Kaserer, Klaus</creatorcontrib><creatorcontrib>Korninger, Lisa</creatorcontrib><creatorcontrib>Steindl, Petra</creatorcontrib><creatorcontrib>Gangl, Alfred</creatorcontrib><creatorcontrib>Ferenci, Peter</creatorcontrib><title>Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis</title><title>Gastroenterology (New York, N.Y. 1943)</title><addtitle>Gastroenterology</addtitle><description>The molecular genetic diagnosis of Wilson's disease in the 5-year-old sister of a patient with Wilson's disease is reported. The girl was clinically free of disease and had no conventional biochemical markers of Wilson's disease (i.e., normal ceruloplasmin, normal copper in the serum, normal 24-hour urinary copper excretion). Diagnosis with restriction fragment length polymorphisms and a nonradioactive polymerase chain reaction-based analysis with microsatellite markers showed her to be homozygous for the disease-associated markers. A liver biopsy was performed, and a 20-fold increased liver copper content confirmed the diagnosis. The child was treated with chelation therapy with
d-penicillamine. The report of this study clearly shows the advantage of DNA linkage analysis (especially polymerase chain reaction) over conventional laboratory methods for presymptomatic diagnosis of Wilson's disease before irreparable liver and neurological damage occurs. The only limitation of this DNA-based diagnosis is the fact that it is only applicable in siblings of an index patient whose diagnosis was made by phenotypic criteria.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Copper - analysis</subject><subject>DNA - analysis</subject><subject>Errors of metabolism</subject><subject>Family Health</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Hepatolenticular Degeneration - diagnosis</subject><subject>Hepatolenticular Degeneration - genetics</subject><subject>Hepatolenticular Degeneration - metabolism</subject><subject>Humans</subject><subject>Liver - chemistry</subject><subject>Liver - pathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>restriction fragment length polymorphism</subject><issn>0016-5085</issn><issn>1528-0012</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kF1LHDEUhkNRdGv7DyrkQmy9mDYfk68bQdSqIG0vWnoZMpkzS3Q-1jmzwv57M-yyl8IhCbzPeQkPIV84-84Z1z9YPgrFrPrm1IVjxvDCfiALroQtciYOyGKPHJOPiE-MMSctPyJHpnRWa7cgf25SWPYDJqRDQ_-nFof-K9I6IQQEmnoa8uCmW01DF6YUKaaqTf2SVht68-uK5vdzWELGQrvJNZ_IYRNahM-7-4T8-3n79_q-ePx993B99VhEJcxURBubxkqrLZeVqo0LSslalxIiMAhOgNVOSqYFKKV02UhT1ZWOsgQwqpLyhJxve1fj8LIGnHyXMELbhh6GNXpjjBCiNBkst2AcB8QRGr8aUxfGjefMzyL9bMnPlrzLM4v0Nq-d7vrXVQf1fmlnLudnuzxgDG0zhj4m3GPCcaPMXHO5xSC7eE0weowJ-gh1GiFOvh7S-_94Az7qjhs</recordid><startdate>19951201</startdate><enddate>19951201</enddate><creator>Maier-Dobersberger, Theresia</creator><creator>Mannhalter, Christine</creator><creator>Rack, Sabine</creator><creator>Granditsch, Gerhard</creator><creator>Kaserer, Klaus</creator><creator>Korninger, Lisa</creator><creator>Steindl, Petra</creator><creator>Gangl, Alfred</creator><creator>Ferenci, Peter</creator><general>Elsevier Inc</general><general>Elsevier</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>7X8</scope></search><sort><creationdate>19951201</creationdate><title>Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis</title><author>Maier-Dobersberger, Theresia ; Mannhalter, Christine ; Rack, Sabine ; Granditsch, Gerhard ; Kaserer, Klaus ; Korninger, Lisa ; Steindl, Petra ; Gangl, Alfred ; Ferenci, Peter</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c527t-c8cff8386813b5d79a553d643ece0ea92e86933062e55564f37bdb6c34ee75b33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Copper - analysis</topic><topic>DNA - analysis</topic><topic>Errors of metabolism</topic><topic>Family Health</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Hepatolenticular Degeneration - diagnosis</topic><topic>Hepatolenticular Degeneration - genetics</topic><topic>Hepatolenticular Degeneration - metabolism</topic><topic>Humans</topic><topic>Liver - chemistry</topic><topic>Liver - pathology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>restriction fragment length polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Maier-Dobersberger, Theresia</creatorcontrib><creatorcontrib>Mannhalter, Christine</creatorcontrib><creatorcontrib>Rack, Sabine</creatorcontrib><creatorcontrib>Granditsch, Gerhard</creatorcontrib><creatorcontrib>Kaserer, Klaus</creatorcontrib><creatorcontrib>Korninger, Lisa</creatorcontrib><creatorcontrib>Steindl, Petra</creatorcontrib><creatorcontrib>Gangl, Alfred</creatorcontrib><creatorcontrib>Ferenci, Peter</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>MEDLINE - Academic</collection><jtitle>Gastroenterology (New York, N.Y. 1943)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Maier-Dobersberger, Theresia</au><au>Mannhalter, Christine</au><au>Rack, Sabine</au><au>Granditsch, Gerhard</au><au>Kaserer, Klaus</au><au>Korninger, Lisa</au><au>Steindl, Petra</au><au>Gangl, Alfred</au><au>Ferenci, Peter</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis</atitle><jtitle>Gastroenterology (New York, N.Y. 1943)</jtitle><addtitle>Gastroenterology</addtitle><date>1995-12-01</date><risdate>1995</risdate><volume>109</volume><issue>6</issue><spage>2015</spage><epage>2018</epage><pages>2015-2018</pages><issn>0016-5085</issn><eissn>1528-0012</eissn><coden>GASTAB</coden><abstract>The molecular genetic diagnosis of Wilson's disease in the 5-year-old sister of a patient with Wilson's disease is reported. The girl was clinically free of disease and had no conventional biochemical markers of Wilson's disease (i.e., normal ceruloplasmin, normal copper in the serum, normal 24-hour urinary copper excretion). Diagnosis with restriction fragment length polymorphisms and a nonradioactive polymerase chain reaction-based analysis with microsatellite markers showed her to be homozygous for the disease-associated markers. A liver biopsy was performed, and a 20-fold increased liver copper content confirmed the diagnosis. The child was treated with chelation therapy with
d-penicillamine. The report of this study clearly shows the advantage of DNA linkage analysis (especially polymerase chain reaction) over conventional laboratory methods for presymptomatic diagnosis of Wilson's disease before irreparable liver and neurological damage occurs. The only limitation of this DNA-based diagnosis is the fact that it is only applicable in siblings of an index patient whose diagnosis was made by phenotypic criteria.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>7498669</pmid><doi>10.1016/0016-5085(95)90771-8</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| source | Elsevier ScienceDirect Journals Complete - AutoHoldings; MEDLINE; Alma/SFX Local Collection |
| subjects | Adult Biological and medical sciences Biopsy Child Child, Preschool Copper - analysis DNA - analysis Errors of metabolism Family Health Female Genetic Linkage Hepatolenticular Degeneration - diagnosis Hepatolenticular Degeneration - genetics Hepatolenticular Degeneration - metabolism Humans Liver - chemistry Liver - pathology Male Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length restriction fragment length polymorphism |
| title | Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis |
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