Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

M Alders, BM Hogan, E Gjini, F Salehi, L Al-Gazali… - Nature …, 2009 - nature.com
M Alders, BM Hogan, E Gjini, F Salehi, L Al-Gazali, EA Hennekam, EE Holmberg…
Nature genetics, 2009nature.com
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.
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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