2. Academic Validation
  3. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

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

Affiliation

  • 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.

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