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Background  Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS was originally described in a Norwegian kindred in which a locus,  LCS1 , was mapped to a 6.6cM region on chromosome 15. Mutations in  CCBE1  on chromosome 18 have been reported in some cases of lymphatic dysplasia, but not in LCS.    Methods  Consanguineous parents of Mexican ancestry had a child with LCS who did not exhibit extended homozygosity in the  LCS1  region. A subsequent pregnancy was electively terminated due to fetal hydrops. We performed whole-genome single nucleotide polymorphism genotyping to identify regions of homozygosity in these siblings, and sequenced promising candidate genes.    Results  Both siblings harbored a homozygous mutation in  CCBE1 , c.398 T>C, predicted to result in the missense change p.L133P. Regions containing known ‘cholestasis genes’ did not demonstrate homozygosity in the LCS patient.    Conclusions  Mutations in  CCBE1  may yield a phenotype not only of lymphatic dysplasia, but also of LCS or fetal hydrops; however, the possibility that the sibling with LCS also carries a homozygous mutation in an unidentified gene influencing cholestasis cannot be excluded.

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops