Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

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 lymph...

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Veröffentlicht in:The Journal of pediatrics 2003-04, Vol.142 (4), p.441-447
Hauptverfasser: Frühwirth, Martin, Janecke, Andreas R., Müller, Thomas, Carlton, Victoria E.H., Kronenberg, Florian, Offner, Felix, Knisely, A.S., Geleff, Silvana, Song, Eyun J., Simma, Burkhard, Königsrainer, Alfred, Margreiter, Raimund, van der Hagen, C.B., Eiklid, Kristin, Aagenaes, Øystein, Bull, Laura, Ellemunter, Helmut
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Sprache:eng
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Zusammenfassung: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. (J Pediatr 2003;142:441-7 )
ISSN:0022-3476
1097-6833
DOI:10.1067/mpd.2003.148