Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Marielle Alders; Benjamin M. Hogan; Evisa Gjini; Faranak Salehi; Lihadh Al-Gazali; Eric A. Hennekam; Eva E. Holmberg; Marcel M A M Mannens; Margot F. Mulder; G. Johan A Offerhaus; Trine E. Prescott; Eelco J. Schroor; Joke B G M Verheij; Merlijn Witte; Petra J. Zwijnenburg; Mikka Vikkula; Stefan Schulte-Merker; Raoul C. Hennekam

doi:10.1038/ng.484

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Marielle Alders, Benjamin M. Hogan, Evisa Gjini, Faranak Salehi, Lihadh Al-Gazali, Eric A. Hennekam, Eva E. Holmberg, Marcel M A M Mannens, Margot F. Mulder, G. Johan A Offerhaus, Trine E. Prescott, Eelco J. Schroor, Joke B G M Verheij, Merlijn Witte, Petra J. Zwijnenburg, Mikka Vikkula, Stefan Schulte-Merker, Raoul C. Hennekam

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191 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1272-1274
Number of pages	3
Journal	Nature Genetics
Volume	41
Issue number	12
DOIs	https://doi.org/10.1038/ng.484
State	Published - Dec 2009
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Alders, M., Hogan, B. M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E. A., Holmberg, E. E., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Prescott, T. E., Schroor, E. J., Verheij, J. B. G. M., Witte, M., Zwijnenburg, P. J., Vikkula, M., Schulte-Merker, S., & Hennekam, R. C. (2009). Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nature Genetics, 41(12), 1272-1274. https://doi.org/10.1038/ng.484

Alders, M, Hogan, BM, Gjini, E, Salehi, F, Al-Gazali, L, Hennekam, EA, Holmberg, EE, Mannens, MMAM, Mulder, MF, Offerhaus, GJA, Prescott, TE, Schroor, EJ, Verheij, JBGM, Witte, M, Zwijnenburg, PJ, Vikkula, M, Schulte-Merker, S & Hennekam, RC 2009, 'Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans', Nature Genetics, vol. 41, no. 12, pp. 1272-1274. https://doi.org/10.1038/ng.484

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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.",

author = "Marielle Alders and Hogan, {Benjamin M.} and Evisa Gjini and Faranak Salehi and Lihadh Al-Gazali and Hennekam, {Eric A.} and Holmberg, {Eva E.} and Mannens, {Marcel M A M} and Mulder, {Margot F.} and Offerhaus, {G. Johan A} and Prescott, {Trine E.} and Schroor, {Eelco J.} and Verheij, {Joke B G M} and Merlijn Witte and Zwijnenburg, {Petra J.} and Mikka Vikkula and Stefan Schulte-Merker and Hennekam, {Raoul C.}",

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AU - Gjini, Evisa

AU - Salehi, Faranak

AU - Al-Gazali, Lihadh

AU - Hennekam, Eric A.

AU - Holmberg, Eva E.

AU - Mannens, Marcel M A M

AU - Mulder, Margot F.

AU - Offerhaus, G. Johan A

AU - Prescott, Trine E.

AU - Schroor, Eelco J.

AU - Verheij, Joke B G M

AU - Witte, Merlijn

AU - Zwijnenburg, Petra J.

AU - Vikkula, Mikka

AU - Schulte-Merker, Stefan

AU - Hennekam, Raoul C.

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

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