Mutations in CCBE1 Cause Generalized Lymph Vessel Dysplasia in Humans

Nat Genet. 2009 Dec;41(12):1272-4. 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.

Publication types

  • Research Support, Non-U.S. Gov't

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