Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Copyright policy )Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
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.
- University of Oslo Norway
- Amsterdam UMC Netherlands
- Vrije Universiteit Amsterdam Netherlands
- University Medical Center Groningen Netherlands
- University of Queensland Australia
Male, Heterozygote, Lymphangiectasis, Molecular Sequence Data, Genes, Recessive, HENNEKAM-SYNDROME, LYMPHANGIECTASIA, Consanguinity, Young Adult, 1311 Genetics, Intellectual Disability, Recessive, Animals, Humans, Abnormalities, Multiple, TRANSCRIPTION FACTOR, Amino Acid Sequence, Lymphedema, Genetics & Heredity, HEREDITARY LYMPHEDEMA, ZEBRAFISH, Lymphangiectasis/genetics, Syndrome, Intellectual Disability/genetics, Pedigree, Phenotype, Genes, Multiple/genetics, Mutation, Abnormalities, Lymphedema/genetics, MENTAL-RETARDATION, SYSTEM, LYMPHANGIOGENESIS
Male, Heterozygote, Lymphangiectasis, Molecular Sequence Data, Genes, Recessive, HENNEKAM-SYNDROME, LYMPHANGIECTASIA, Consanguinity, Young Adult, 1311 Genetics, Intellectual Disability, Recessive, Animals, Humans, Abnormalities, Multiple, TRANSCRIPTION FACTOR, Amino Acid Sequence, Lymphedema, Genetics & Heredity, HEREDITARY LYMPHEDEMA, ZEBRAFISH, Lymphangiectasis/genetics, Syndrome, Intellectual Disability/genetics, Pedigree, Phenotype, Genes, Multiple/genetics, Mutation, Abnormalities, Lymphedema/genetics, MENTAL-RETARDATION, SYSTEM, LYMPHANGIOGENESIS
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