title: Evidence for genetic heterogeneity in lymphedema-cholestasis 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.
authors.affiliation: Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria.
authors.forename: Martin
authors.initials: M
authors.lastname: Frühwirth
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Victoria E H
authors.initials: VE
authors.lastname: Carlton
authors.forename: Florian
authors.initials: F
authors.lastname: Kronenberg
authors.forename: Felix
authors.initials: F
authors.lastname: Offner
authors.forename: A S
authors.initials: AS
authors.lastname: Knisely
authors.forename: Silvana
authors.initials: S
authors.lastname: Geleff
authors.forename: Eyun J
authors.initials: EJ
authors.lastname: Song
authors.forename: Burkhard
authors.initials: B
authors.lastname: Simma
authors.forename: Alfred
authors.initials: A
authors.lastname: Königsrainer
authors.forename: Raimund
authors.initials: R
authors.lastname: Margreiter
authors.forename: C B
authors.initials: CB
authors.lastname: van der Hagen
authors.forename: Kristin
authors.initials: K
authors.lastname: Eiklid
authors.forename: Oystein
authors.initials: O
authors.lastname: Aagenaes
authors.forename: Laura
authors.initials: L
authors.lastname: Bull
authors.forename: Helmut
authors.initials: H
authors.lastname: Ellemunter
mesh_terms: D002779:Cholestasis / Q000150:complications* / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D018740:Genetic Heterogeneity; D008040:Genetic Linkage / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008209:Lymphedema / Q000150:complications* / Q000151:congenital / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome