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.
Alders
Marielle
M
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
Hogan
Benjamin M
BM
Gjini
Evisa
E
Salehi
Faranak
F
Al-Gazali
Lihadh
L
Hennekam
Eric A
EA
Holmberg
Eva E
EE
Mannens
Marcel M A M
MM
Mulder
Margot F
MF
Offerhaus
G Johan A
GJ
Prescott
Trine E
TE
Schroor
Eelco J
EJ
Verheij
Joke B G M
JB
Witte
Merlijn
M
Zwijnenburg
Petra J
PJ
Vikkula
Mikka
M
Schulte-Merker
Stefan
S
Hennekam
Raoul C
RC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D003241:Consanguinity; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008200:Lymphangiectasis / Q000235:genetics*; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult