Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

  • Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484.
Marielle Alders  1 ,  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
Affiliations
  • 1. Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
PMID: 19935664 DOI: 10.1038/ng.484
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.