Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Raoul Hennekam and colleagues report the identification of mutations in CCBE1 that cause Hennekam syndrome in humans. Features of Hennekam syndrome include lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics. CCBE1 encodes Collagen and Calcium-Binding EGF domain-1, a...

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Vydané v:Nature genetics Ročník 41; číslo 12; s. 1272 - 1274
Hlavní autori: Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A, Prescott, Trine E, Schroor, Eelco J, Verheij, Joke B G M, Witte, Merlijn, Zwijnenburg, Petra J, Vikkula, Mikka, Schulte-Merker, Stefan, Hennekam, Raoul C
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: New York Nature Publishing Group US 01.12.2009
Nature Publishing Group
Predmet:
Abnormalities, Multiple - genetics
Agriculture
Amino Acid Sequence
Animal Genetics and Genomics
Animals
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
brief-communication
Cancer Research
Chromosome mapping
Consanguinity
Dysplasia
Fundamental and applied biological sciences. Psychology
Gene Function
Gene mutations
Genes, Recessive
Genetic aspects
Genetics of eukaryotes. Biological and molecular evolution
Health aspects
Heterozygote
Homozygosity
Human Genetics
Human subjects
Humans
Intellectual Disability - genetics
Lymphangiectasis - genetics
Lymphatic system
Lymphedema - genetics
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Proteins
Risk factors
Syndrome
Young Adult
Zebrafish
United Kingdom
Netherlands
Human
Dysplasia
Mutation
Generalized
ISSN:1061-4036, 1546-1718, 1546-1718
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Shrnutí:Raoul Hennekam and colleagues report the identification of mutations in CCBE1 that cause Hennekam syndrome in humans. Features of Hennekam syndrome include lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics. CCBE1 encodes Collagen and Calcium-Binding EGF domain-1, a secreted protein that has been shown to be required for embryonic lymphangiogenesis in zebrafish. 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.
Bibliografia:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/ng.484