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 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.
Frühwirth
Martin
M
Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria.
Janecke
Andreas R
AR
Müller
Thomas
T
Carlton
Victoria E H
VE
Kronenberg
Florian
F
Offner
Felix
F
Knisely
A S
AS
Geleff
Silvana
S
Song
Eyun J
EJ
Simma
Burkhard
B
Königsrainer
Alfred
A
Margreiter
Raimund
R
van der Hagen
C B
CB
Eiklid
Kristin
K
Aagenaes
Oystein
O
Bull
Laura
L
Ellemunter
Helmut
H
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