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Updated: Jun 18, 2026
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Marielle Alders1, Benjamin M Hogan, Evisa Gjini
1Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
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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