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

212 Citations (Scopus)

Abstract

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
Number of pages3
JournalNature Genetics
Volume41
Issue number12
DOIs
Publication statusPublished - Dec 2009

ASJC Scopus subject areas

  • Genetics

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