Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
Identifieur interne : 000D38 ( Ncbi/Curation ); précédent : 000D37; suivant : 000D39Evidence 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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<author><name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
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<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>
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<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>
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<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>
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<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>
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<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>
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