Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal 
cholestasis that usually lessens during early childhood and becomes episodic; 
they also develop chronic severe lymphedema. The genetic cause of CLS is 
unknown. We performed a genome screen, using DNA from eight Norwegian patients 
with CLS and from seven unaffected relatives, all from an extended pedigree. 
Regions potentially shared identical by descent in patients were further 
characterized in a larger set of Norwegian patients. The patients manifest 
extensive allele and haplotype sharing over the 6.6-cM D15S979-D15S652 region: 
30 (83.3%) of 36 chromosomes of affected individuals carry a six-marker 
haplotype not found on any of the 32 nontransmitted parental chromosomes. All 
Norwegian patients with CLS are likely homozygous for the same disease mutation, 
inherited from a shared ancestor.