ZFIN ID: ZDB-PUB-091204-28
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Alders, M., Hogan, B.M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E.A., Holmberg, E.E., Mannens, M.M., Mulder, M.F., Offerhaus, G.J., Prescott, T.E., Schroor, E.J., Verheij, J.B., Witte, M., Zwijnenburg, P.J., Vikkula, M., Schulte-Merker, S., and Hennekam, R.C.
Date: 2009
Source: Nature Genetics   41(12): 1272-1274 (Journal)
Registered Authors: Gjini, Evisa, Hogan, Ben M., Schulte-Merker, Stefan, Witte, Merlijn
Keywords: none
MeSH Terms:
  • Abnormalities, Multiple/genetics*
  • Amino Acid Sequence
  • Animals
  • Consanguinity
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Intellectual Disability/genetics
  • Lymphangiectasis/genetics*
  • Lymphedema/genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Phenotype
  • Syndrome
  • Young Adult
PubMed: 19935664 Full text @ Nat. Genet.
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.