Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Marielle Alders, Benjamin M. Hogan, Evisa Gjini, Faranak Salehi, Lihadh Al-Gazali, Eric A. Hennekam, Eva E. Holmberg, Marcel M A M Mannens, Margot F. Mulder, G. Johan A Offerhaus, Trine E. Prescott, Eelco J. Schroor, Joke B G M Verheij, Merlijn Witte, Petra J. Zwijnenburg, Mikka Vikkula, Stefan Schulte-Merker, Raoul C. Hennekam

Research output: Contribution to journalArticlepeer-review

191 Scopus citations


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 (US)
Pages (from-to)1272-1274
Number of pages3
JournalNature Genetics
Issue number12
StatePublished - Dec 2009
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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