Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
Identifieur interne : 004276 ( PubMed/Curation ); précédent : 004275; suivant : 004277Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
Auteurs : Martin Frühwirth [Autriche] ; Andreas R. Janecke ; Thomas Müller ; Victoria E H. Carlton ; Florian Kronenberg ; Felix Offner ; A S Knisely ; Silvana Geleff ; Eyun J. Song ; Burkhard Simma ; Alfred Königsrainer ; Raimund Margreiter ; C B Van Der Hagen ; Kristin Eiklid ; Oystein Aagenaes ; Laura Bull ; Helmut EllemunterSource :
- The Journal of pediatrics [ 0022-3476 ] ; 2003.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- complications : Cholestasis, Lymphedema.
- congenital : Cholestasis, Lymphedema.
- genetics : Cholestasis, Genetic Linkage, Haplotypes, Lymphedema.
- Chromosome Mapping, Genetic Heterogeneity, Humans, Infant, Newborn, Male, Pedigree, Syndrome.
Abstract
Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serbian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undescribed lymphedema-cholestasis syndrome.
DOI: 10.1067/mpd.2003.148
PubMed: 12712065
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Janecke</name></author><author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name></author><author><name sortKey="Carlton, Victoria E H" sort="Carlton, Victoria E H" uniqKey="Carlton V" first="Victoria E H" last="Carlton">Victoria E H. Carlton</name></author><author><name sortKey="Kronenberg, Florian" sort="Kronenberg, Florian" uniqKey="Kronenberg F" first="Florian" last="Kronenberg">Florian Kronenberg</name></author><author><name sortKey="Offner, Felix" sort="Offner, Felix" uniqKey="Offner F" first="Felix" last="Offner">Felix Offner</name></author><author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A S" last="Knisely">A S Knisely</name></author><author><name sortKey="Geleff, Silvana" sort="Geleff, Silvana" uniqKey="Geleff S" first="Silvana" last="Geleff">Silvana Geleff</name></author><author><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J" last="Song">Eyun J. Song</name></author><author><name sortKey="Simma, Burkhard" sort="Simma, Burkhard" uniqKey="Simma B" first="Burkhard" last="Simma">Burkhard Simma</name></author><author><name sortKey="Konigsrainer, Alfred" sort="Konigsrainer, Alfred" uniqKey="Konigsrainer A" first="Alfred" last="Königsrainer">Alfred Königsrainer</name></author><author><name sortKey="Margreiter, Raimund" sort="Margreiter, Raimund" uniqKey="Margreiter R" first="Raimund" last="Margreiter">Raimund Margreiter</name></author><author><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C B" last="Van Der Hagen">C B Van Der Hagen</name></author><author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name></author><author><name sortKey="Aagenaes, Oystein" sort="Aagenaes, Oystein" uniqKey="Aagenaes O" first="Oystein" last="Aagenaes">Oystein Aagenaes</name></author><author><name sortKey="Bull, Laura" sort="Bull, Laura" uniqKey="Bull L" first="Laura" last="Bull">Laura Bull</name></author><author><name sortKey="Ellemunter, Helmut" sort="Ellemunter, Helmut" uniqKey="Ellemunter H" first="Helmut" last="Ellemunter">Helmut Ellemunter</name></author></analytic><series><title level="j">The Journal of pediatrics</title><idno type="ISSN">0022-3476</idno><imprint><date when="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cholestasis (complications)</term><term>Cholestasis (congenital)</term><term>Cholestasis (genetics)</term><term>Chromosome Mapping</term><term>Genetic Heterogeneity</term><term>Genetic Linkage (genetics)</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphedema (complications)</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Cartographie chromosomique</term><term>Cholestase ()</term><term>Cholestase (génétique)</term><term>Haplotypes (génétique)</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Liaison génétique (génétique)</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Mâle</term><term>Nouveau-né</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cholestasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Cholestasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholestasis</term><term>Genetic Linkage</term><term>Haplotypes</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cholestase</term><term>Haplotypes</term><term>Liaison génétique</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term><term>Genetic Heterogeneity</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Cartographie chromosomique</term><term>Cholestase</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Lymphoedème</term><term>Mâle</term><term>Nouveau-né</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serbian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undescribed lymphedema-cholestasis syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12712065</PMID><DateCreated><Year>2003</Year><Month>04</Month><Day>24</Day></DateCreated><DateCompleted><Year>2003</Year><Month>05</Month><Day>30</Day></DateCompleted><DateRevised><Year>2010</Year><Month>11</Month><Day>18</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0022-3476</ISSN><JournalIssue CitedMedium="Print"><Volume>142</Volume><Issue>4</Issue><PubDate><Year>2003</Year><Month>Apr</Month></PubDate></JournalIssue><Title>The Journal of pediatrics</Title><ISOAbbreviation>J. Pediatr.</ISOAbbreviation></Journal><ArticleTitle>Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.</ArticleTitle><Pagination><MedlinePgn>441-7</MedlinePgn></Pagination><Abstract><AbstractText>Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serbian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undescribed lymphedema-cholestasis syndrome.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Frühwirth</LastName><ForeName>Martin</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Janecke</LastName><ForeName>Andreas R</ForeName><Initials>AR</Initials></Author><Author ValidYN="Y"><LastName>Müller</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Carlton</LastName><ForeName>Victoria E H</ForeName><Initials>VE</Initials></Author><Author ValidYN="Y"><LastName>Kronenberg</LastName><ForeName>Florian</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Offner</LastName><ForeName>Felix</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Knisely</LastName><ForeName>A S</ForeName><Initials>AS</Initials></Author><Author ValidYN="Y"><LastName>Geleff</LastName><ForeName>Silvana</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Song</LastName><ForeName>Eyun J</ForeName><Initials>EJ</Initials></Author><Author ValidYN="Y"><LastName>Simma</LastName><ForeName>Burkhard</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Königsrainer</LastName><ForeName>Alfred</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Margreiter</LastName><ForeName>Raimund</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>van der Hagen</LastName><ForeName>C B</ForeName><Initials>CB</Initials></Author><Author ValidYN="Y"><LastName>Eiklid</LastName><ForeName>Kristin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Aagenaes</LastName><ForeName>Oystein</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Bull</LastName><ForeName>Laura</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Ellemunter</LastName><ForeName>Helmut</ForeName><Initials>H</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01-DK58214</GrantID><Acronym>DK</Acronym><Agency>NIDDK NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Pediatr</MedlineTA><NlmUniqueID>0375410</NlmUniqueID><ISSNLinking>0022-3476</ISSNLinking></MedlineJournalInfo><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002779" MajorTopicYN="N">Cholestasis</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000151" MajorTopicYN="N">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002874" MajorTopicYN="N">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018740" MajorTopicYN="Y">Genetic Heterogeneity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008040" MajorTopicYN="N">Genetic Linkage</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000151" MajorTopicYN="N">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year><Month>4</Month><Day>25</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>5</Month><Day>31</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>4</Month><Day>25</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12712065</ArticleId><ArticleId IdType="pii">S0022-3476(03)00049-0</ArticleId><ArticleId IdType="doi">10.1067/mpd.2003.148</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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