Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

M. Alders, B.M. Hogan, E. Gjini, F. Salehi, L. Al-Gazali, E.A. Hennekam, E.E. Holmberg, M.M. Mannens, M.F. Mulder, G.J.A. Offerhaus, T.E. Prescott, E.J. Schroor, J.B. Verheij, M. de Witte, P.J. Zwijnenburg, M. Vikkula, S. Schulte-Merker, R. Hennekam

Research output: Contribution to journal/periodicalArticleScientificpeer-review

243 Citations (Scopus)


Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.
Original languageEnglish
Pages (from-to)1272-1274
JournalNature Genetics
Issue number12
Publication statusPublished - 2009


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